DSP - desmoplakin Gene

中文名称：桥粒斑蛋白

种属: Homo sapiens

同用名: DP; DCWHKTA

基因 ID: 1832 | 基因类型: protein coding

关于 DSP

Cytogenetic location: 6p24.3 Genomic coordinates (GRCh38): 6:7,541,671-7,586,714 (from NCBI)

This gene has 7 transcripts (splice variants), 279 orthologues, 36 paralogues and is associated with 21 phenotypes. Biased expression in skin (RPKM 438.1), esophagus (RPKM 191.0) and 7 other tissues.

功能概要

该基因编码一种蛋白质，该蛋白质将中间丝固定到桥粒斑块上，并形成功能性桥粒的专性成分。该基因的突变是多种心肌病和皮肤角化病的原因，包括皮肤脆弱 - 毛发综合症。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 1 月]

This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

DSP 基因产物(4)

mRNA	Protein	Name
NM_001008844.3	NP_001008844.1	desmoplakin isoform II
NM_001319034.2	NP_001305963.1	desmoplakin isoform Ia
NM_001406591.1	NP_001393520.1	desmoplakin isoform 4
NM_004415.4	NP_004406.2	desmoplakin isoform I

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	10852826	GOA
enables protein kinase C binding	IPI IPI: 通过物理相互作用推断	18474624	GOA
enables scaffold protein binding	IPI IPI: 通过物理相互作用推断	10852826	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP IMP: 通过突变表型推断	12373648	GOA
acts upstream of or within epithelial cell-cell adhesion	IMP IMP: 通过突变表型推断	27892606	GOA
involved in regulation of heart rate by cardiac conduction	IMP IMP: 通过突变表型推断	12373648	GOA
involved in regulation of ventricular cardiac muscle cell action potential	IMP IMP: 通过突变表型推断	12373648	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in desmosome	IDA IDA: 通过直接分析推断	20859650	GOA
located in intercalated disc	IDA IDA: 通过直接分析推断	22781308	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	11790773	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

DSP 蛋白结构

Plectin

0
500
1000
1500
2000
2500
2871 a.a.

蛋白主名

其他名称

desmoplakin

250/210 kDa paraneoplastic pemphigus antigen

DSP 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	DSP	P15924	MAPRE1	Homo sapiens	Q15691	PLA	25225338
种属内	DSP	P15924	MAPRE1	Homo sapiens	Q15691	IF	25225338
种属内	DSP	P15924	FES	Homo sapiens	P07332	Anti Tag CoIP	25852190
种属内	DSP	P15924	PKP1	Homo sapiens	Q13835-2	Anti Bait CoIP	10852826

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 DSP 蛋白

目录号	产品名	蛋白编号	纯度
HY-P72176	DSP Protein, Human (His-SUMO)	P15924 (C78-D300)	≥95%

DSP 抗体

目录号	产品名	应用	反应物种
HY-P82634	Desmoplakin Antibody (YA2379)	WB, ICC/IF, FC	Human, Rat

关联疾病

疾病名称

别名

Skin Fragility-Woolly Hair Syndrome

Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome	SFWHS
Skin Fragility Woolly Hair Syndrome	Skin Fragility-Woolly Hair-Palmoplantar Hyperkeratosis Syndrome
Skin Fragility, Woolly Hair Syndrome

Epidermolysis Bullosa, Lethal Acantholytic

Lethal Acantholytic Epidermolysis Bullosa	EBLA
Laeb	Lethal Acantholytic Erosive Disorder

Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Arrhythmogenic Right Ventricular Dysplasia 8	ARVD8
Arrhythmogenic Right Ventricular Cardiomyopathy 8	Arvc8
Familial Arrhythmogenic Right Ventricular Dysplasia 8	Dysplasia, Ventricular, Right, Arrhythmogenic, Type 8

Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis

DCWHKTA	Dilated Cardiomyopathy With Woolly Hair, Keratoderma, And Tooth Agenesis
Cardiomyopathy, Dilated With Woolly Hair, Keratoderma, And Tooth Agenesis

Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma

Carvajal Syndrome	Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair
DCWHK	Dilated Cardiomyopathy With Woolly Hair And Keratoderma
Cardiomyopathy Dilated With Woolly Hair And Keratoderma	Kwwh Type Ii
Keratoderma With Woolly Hair Type Ii	Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome
Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome	Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome
Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome	Epidermolytic Palmoplantar Keratoderma Woolly Hair And Dilated Cardiomyopathy
Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy	Cardiomyopathy, Dilated With Woolly Hair And Keratoderma

Keratosis Palmoplantaris Striata Ii

Keratosis Palmoplantaris Striata 2	PPKS2
Kpps2	Striate Palmoplantar Keratoderma Ii
SPPK2	Keratoderma, Palmoplantar, Striate Form Ii
Keratoderma, Palmoplantar, Striate 2	Keratoderma Palmoplantar Striate Form Ii
Keratosis Palmoplantaris Striata, Type 2

Familial Isolated Arrhythmogenic Right Ventricular Dysplasia

Familial Isolated Arvc	Familial Isolated Arvd
Familial Isolated Arrhythmogenic Right Ventricular Cardiomyopathy	Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy
Familial Isolated Arrhythmogenic Ventricular Dysplasia

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia	Arvc
Arvd	Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Arvc Cardiomyopathy	Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
Arvd/C	Right Ventricular Dysplasia, Arrhythmogenic
Ventricular Dysplasia, Right, Arrhythmogenic	Cardiomyopathy, Ventricular, Right, Arrhythmogenic
Dysplasia, Arrhythmogenic Right Ventricular

Erythrokeratodermia-Cardiomyopathy Syndrome

Ekc Syndrome

Cardiomyopathy, Dilated, 1a

Dilated Cardiomyopathy 1a	Cdcd1
CMD1A	Cardiomyopathy, Familial Idiopathic
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Cardiomyopathy, Dilated, With Conduction Defect 1
Cardiomyopathy, Idiopathic Dilated	Cardiomyopathy, Congestive
Dilated Cardiomyopathy With Conduction Defect 1	Cardiomyopathy Dilated With Conduction Defect Type 1
Cardiomyopathy, Dilated 1a	Cardiomyopathy Dilated With Conduction Defect 1
Cardiomyopathy, Dilated, Type 1a

Striate Palmoplantar Keratoderma

Keratosis Palmoplantaris Striata	Keratosis Palmoplantaris Striata Et Areata
Keratosis Palmoplantaris Varians Of Wachters

Cardiomyopathy, Dilated, 1h

Dilated Cardiomyopathy 1h	Dilated Cardiomyopathy With Conduction Defect
CMD1H	Cardiomyopathy, Dilated, With Conduction Defect

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige

Sam Syndrome	Severe Dermatitis-Multiple Allergies-Metabolic Wasting Syndrome
EPKHE	Severe Dermatitis, Multiple Allergies, And Metabolic Wasting Syndrome
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper Ige	Congenital Erythroderma-Hypotrichosis-Recurrent Infections-Multiple Food Allergies Syndrome

Cardiac Conduction Defect

Sudden Cardiac Death	Cardiac Conduction Defect, Susceptibility To
SCD	Cardiac Conduction Abnormality
Death Sudden Cardiac	Cardiac Conduction Disease
Conduction Disorder Of The Heart

Aortic Valve Disease 1

Aortic Valve Disease	Bicuspid Aortic Valve
Aortic Valve Disorder	AOVD1
Bav	Bicuspid Aortic Valve Disease
Familial Bicuspid Aortic Valve	Aortic Valve Calcification
Aovd	Aortic Valve, Bicuspid
Aortic Valve, Calcification Of	Aortic Stenosis, Calcific
Familial Bav	Calcific Aortic Stenosis
Calcification Of Aortic Valve	Abnormality Of The Aortic Valve
Aortic Valve Disease, Type 1	Aortic Valve Disease 2
Bicommissural Aortic Valve

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form	Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form

Long Qt Syndrome 1

Romano-Ward Syndrome	LQT1
Ward-Romano Syndrome	Rws
Ventricular Fibrillation With Prolonged Qt Interval	Wrs
Long Qt Syndrome 1, Acquired, Susceptibility To	Long Qt Syndrome 1, Acquired
Romano-Ward Long Qt Syndrome	Long Qt Syndrome Type 1
Long Qt Syndrome-1	Acquired Susceptibility To Long Qt Syndrome 1
Qt Syndrome, Long, Type 1

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Myocarditis

Myocardial Inflammation

Inflammatory Cardiomyopathy

Erythema Multiforme

Dermatostomatitis, Erythema Multiforme Type	Em
Erythema Multiforme Bullosum	Erythema Polymorphe, Erythema Multiforme Type
Febrile Mucocutaneous Syndrome	Herpes Iris, Erythema Multiforme Type
Stevens-Johnson Syndrome	Em - [Erythema Multiforme]

Cardiac Arrest

Cardiopulmonary Arrest	Circulatory Arrest
Heart Arrest

Pemphigus

Progressive Familial Heart Block, Type Ia

PFHB1A	Bundle Branch Block
Heart Block, Nonprogressive	Lenegre-Lev Disease
Hereditary Bundle Branch System Defect	Progressive Familial Heart Block Type Ia
Pfhbia	Pccd
Hbbd	Progressive Familial Heart Block, Type 1a
Heart Block, Progressive Familial, Type I	Pfhbi
Cardiac Conduction Defect, Progressive	Heart Block, Progressive, Type Ia
Progressive Familial Heart Block Type 1a	Familial Progressive Cardiac Conduction Defect
Heart Block Progressive Familial Type 1	Familial Lenègre Disease
Familial Lev Disease	Familial Lev-Lenègre Disease
Familial Pccd	Familial Progressive Heart Block
Hereditary Bundle Branch Defect	Progressive Familial Heart Block
Progressive Familial Heart Block 1a	Cardiac Conduction Defect
Progressive Cardiac Conduction Defect	Progressive Familial Heart Block Type I
Heart Block, Progressive, Familial, Type 1a	Bundle-Branch Block
Conduction Disorder Of The Heart

Naxos Disease

Mal De Naxos	NXD
Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities	Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities
Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair	Keratosis Palmoplantaris With Arrythmogenic Cardiomyopathy
Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy	Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair
Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities	Kwwh Type I
Keratoderma With Woolly Hair Type I	Palmoplantar Hyperkeratosis With Arrythmogenic Cardiomyopathy
Palmoplantar Keratoderma With Arrythmogenic Cardiomyopathy

Paraneoplastic Pemphigus

Pemphigus Erythematosus

Seborrheic Pemphigus

Senear-Usher Syndrome

Progressive Familial Heart Block

Hereditary Bundle Branch Defect	Hereditary Bundle Branch System Defect
Familial Lenegre Disease	Familial Lev Disease
Familial Lev-Lenegre Disease	Familial Pccd
Familial Progressive Heart Block	Pfhb
Bundle Branch Block	Hbbd
Lenegre Lev Disease	Lev Syndrome
Lev'S Disease	Lev-Lenègre Disease
Pccd	Progressive Cardiac Conduction Defect
Bundle-Branch Block

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Arrhythmogenic Right Ventricular Dysplasia 9	ARVD9
Arrhythmogenic Right Ventricular Cardiomyopathy 9	Arvc9
Familial Arrhythmogenic Right Ventricular Dysplasia 9	Dysplasia, Arrhythmogenic Right Ventricular, Type 9

Perineurioma

Soft Tissue Perineurioma

Pemphigus Vulgaris, Familial

Pemphigus Vulgaris	Familial Pemphigus Vulgaris
Pemphigus

Bullous Pemphigoid

Benign Pemphigus	Senile Dermatitis Herpetiformis
Old Age Pemphigus	Parapemphigus
Pemphigoid	Pemphigoid Bullous
Pemphigoid, Bullous

Darier-White Disease

Keratosis Follicularis	Darier Disease
Darier'S Disease	DAR
DD	Darier White Disease
Darier Disease Acral Hemorrhagic Type	Darier Disease Segmental
Darier Disease, Acral Hemorrhagic Type	Darier Disease, Segmental

Benign Chronic Pemphigus

Hailey-Hailey Disease	Pemphigus, Benign Familial
Familial Benign Pemphigus	Benign Familial Pemphigus
Familial Benign Chronic Pemphigus	BCPM
HHD	Benign Chronic Familial Pemphigus Of Hailey-Hailey
Pemphigus, Chronic, Benign

Epidermolysis Bullosa

Acantholysis Bullosa

Hair Disease

Hair Diseases	Hair Anomaly
Hair Disorder	Hair Problems

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis	Ipf
Fibrocystic Pulmonary Dysplasia	Pulmonary Fibrosis, Idiopathic
Pulmonary Fibrosis, Idiopathic, Susceptibility To	Cryptogenic Fibrosing Alveolitis
ILD2	Idiopathic Pulmonary Fibrosis, Familial
Fibrosing Alveolitis, Cryptogenic	Uip
Fibrosing Alveolitis	Interstitial Pneumonitis, Usual
Familial Idiopathic Pulmonary Fibrosis	Idiopathic Fibrosing Alveolitis, Chronic Form
Usual Interstitial Pneumonia	Fibrosing Alveolitis Cryptogenic
Hamman-Rich Disease	Idiopathic Pulmonary Fibrosis Familial
Interstitial Pneumonitis Usual	Fibrosis Idiopathic Pulmonary
Fibrosis, Pulmonary, Idiopathic	Hamman-Rich Syndrome
Chronic Idiopathic Pulmonary Fibrosis	Acute Interstitial Pneumonia
Interstitial Pulmonary Fibrosis	Ipf - [Idiopathic Pulmonary Fibrosis]
Idiopathic Lung Fibrosis	Fibrosing Lung Disease
Pulmonary Fibrosis Nos	Fibrosing Pneumonitis

Palmoplantar Keratosis

Palmoplantar Keratoderma	Keratosis Palmaris Et Plantaris
Palmo-Plantar Keratodermas	Keratoderma, Palmoplantar
Keratoderma Palmoplantar	Keratoderma, Palmoplantar, Diffuse
Hyperkeratosis Of Palms And Soles	Palmoplantar Hyperkeratosis

Cardiomyopathy, Dilated, 1b

Cardiomyopathy, Familial Dilated, 1	Cardiomyopathy, Dilated 1b
CMD1B	Cmpd1
Cardiomyopathy, Familial Dilated	Fdc
Dilated Cardiomyopathy 1b	Familial Dilated Cardiomyopathy

Alopecia

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

Pemphigus Foliaceus

Pemphigus Foliaceous	Pf
Superficial Pemphigus

Epithelioid Neurofibroma

Pemphigoid

Diffuse Palmoplantar Keratoderma

Diffuse Palmoplantar Hyperkeratosis	Diffuse Ppk
Diffuse Keratosis Palmoplantaris

Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma	NEPPK
Tylosis	Unna-Thost Syndrome
Keratoderma, Palmoplantar, Diffuse	Ppkne
Keratoderma, Nonepidermolytic Palmoplantar	Diffuse Nonepidermolytic Palmomplantar Keratoderma
Thost-Unna Syndrome	Non-Epidermolytic Palmoplantar Keratoderma
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type	Diffuse Palmoplantar Keratoderma, Bothnian Type
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Krt1-Related Diffuse Neppk
Keratoderma, Palmoplantar, Non-Epidermolytic	Nonepidermolytic Unna-Thost Disease
Non-Epidermolytic Unna-Thost Disease	Keratoderma, Palmoplantar, Nonepidermolytic
Hyperkeratosis

Familial Woolly Hair Syndrome

Wooly Hair	Familial Wooly Hair Syndrome
Hereditary Woolly Hair Syndrome	Hereditary Wooly Hair Syndrome
Woolly Hair	Syndrome With Woolly Hair
Wooly Hair Syndrome

Thymoma

Primary Thymic Epithelial Neoplasm	Primary Thymic Epithelial Tumor
Thymus Neoplasms

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Microscopic Polyangiitis

Microscopic Polyarteritis	Mpa
Micropolyangiitis

Cardiac Sarcoidosis

Tooth Agenesis

Oligodontia	Hypodontia
Selective Tooth Agenesis	Tooth Agenesis, Selective
Familial Tooth Agenesis	Anodontia
Congenital Absence Of One Tooth

Atrial Standstill 1

ATRST1	Atrial Cardiomyopathy With Heart Block
Cardiomyopathy, Familial, With Conduction Disturbance	Atrial Standstill, Digenic
Familial Cardiomyopathy With Conduction Disturbance	Standstill, Atrial, Type 1
Heart Block	Cardiomyopathies
Idiopathic Cardiomyopathy	Idiopathic Cardiopathy
Primary Myocardial Disease	Primary Cardiomyopathy
Myocardiopathy	Myocardosis
Primary Idiopathic Myocardial Disease

Iga Pemphigus

Ectodermal Dysplasia

Congenital Ectodermal Defect	Congenital Ectodermal Dysplasia
Ectodermal Dysplasia Syndrome	Dysplasia, Ectodermal

Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous

Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Arrhythmogenic Right Ventricular Dysplasia 12	ARVD12
Arrhythmogenic Right Ventricular Cardiomyopathy 12	Arvc12
Familial Arrhythmogenic Right Ventricular Dysplasia 12	Dysplasia, Ventricular, Right, Arrhythmogenic, Type 12

Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Arrhythmogenic Right Ventricular Dysplasia 6	ARVD6
Arrhythmogenic Right Ventricular Cardiomyopathy 6	Arvc6
Familial Arrhythmogenic Right Ventricular Dysplasia 6	Arrhythmogenic Right Ventricular Dysplasia-6

Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Arrhythmogenic Right Ventricular Dysplasia 5	ARVD5
Arrhythmogenic Right Ventricular Cardiomyopathy 5	Arvc5
Familial Arrhythmogenic Right Ventricular Dysplasia 5	Dysplasia, Ventricular, Right, Arrhythmogenic, Type 5

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Arrhythmogenic Right Ventricular Dysplasia 1	Uhl Anomaly
Arrhythmogenic Right Ventricular Cardiomyopathy 1	Arvc1
ARVD1	Cardiomyopathy Right Ventricular Dilated
Dysplasia, Arrhythmogenic Right Ventricular, Type 1

Left Bundle Branch Hemiblock

Left Bundle Branch Block

Left Bundle-Branch Block

Epidermolytic Hyperkeratosis

Bullous Congenital Ichthyosiform Erythroderma	Bullous Ichthyosiform Erythroderma
EHK	Bullous Erythroderma Ichthyosiformis Congenita Of Brocq
Bcie	Bie
Epidermolytic Ichthyosis	Ichthyosis Bullosa Of Siemens
Superficial Epidermolytic Ichthyosis	Hyperkeratosis, Epidermolytic
Congenital Bullous Ichthyosiform Erythroderma	Bullous Type Ichthyosis
Epidermolytic Palmoplantar Hyperkeratosis	Bullous Ichthyosiform Erythroderma Congenita
Bullous Erythroderma Ichthyosiforme	Sei
Epidermolytic Hyperkeratosis Late-Onset	Epidermolytic Hyperkeratosis, Late-Onset

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Arrhythmogenic Right Ventricular Dysplasia 2	ARVD2
Arrhythmogenic Right Ventricular Cardiomyopathy 2	Arvc2
Familial Arrhythmogenic Right Ventricular Dysplasia 2	Dysplasia, Arrhythmogenic Right Ventricular, Type 2

Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation

Epidermolysis Bullosa Simplex With Mottled Pigmentation	Ebsmp
Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering	Ebs-Mp
EBS2F	Ebs With Mottled Pigmentation
Epidermolysis Bullosa Simplex-Mp	Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering
Epidermolysis Bullosa Simplex, With Mottled Pigmentation

Punctate Palmoplantar Keratoderma

Punctate Palmoplantar Hyperkeratosis	Punctate Keratosis Palmoplantaris
Punctate Ppk

Palmoplantar Keratoderma, Epidermolytic

Epidermolytic Palmoplantar Keratoderma	EPPK
Keratosis Palmaris Et Plantaris Familiaris	Tylosis
Keratosis Of Greither	Diffuse Nonepidermolytic Palmoplantar Keratoderma
Keratoderma, Palmoplantar, Epidermolytic	Unna-Thost Palmoplantar Keratoderma
Epidermolytic Palmoplantar Keratoderma Of Voerner	Ppke
Keratoderma, Epidermolytic Palmoplantar	Palmoplantar Keratoderma, Vorner Type
Hyperkeratosis, Localized Epidermolytic	Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type
Epidermolytic Palmoplantar Keratoderma Of Vörner	Hyperkeratosis Palmoplantar Localized Epidermolytic
Diffuse Neppk	Ppk Diffusa Circumscripta
Thost-Unna Disease	Thost-Unna Palmoplantar Keratoderma
Diffuse Erythrodermic Palmoplantar Keratoderma, Voerner Type	Diffuse Erythrodermic Palmoplantar Keratoderma, Vorner Type
Epidermolytic Palmoplantar Keratoderma Of Vorner	Ehppk
Epidermolytic Unna-Thost Disease	Localized Epidermolytic Hyperkeratosis
Palmoplantar Keratoderma Vorner Type	Unilateral Palmoplantar Verrucous Nevus
UPVN	Keratoderma, Palmoplantar, Diffuse
Hyperkeratosis	Palmoplantar Keratoderma, Nonepidermolytic
Epidermolytic Palmoplantar Keratoderma Vorner Type	Type B Tylosis
Hyperkeratosis Of The Palms And Soles And Esophageal Papillomas	Type A Tylosis

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

Subcorneal Pustular Dermatosis

Subcorneal Pustular Dermatitis	Sneddon-Wilkinson Disease Or Syndrome
Pustulosis Subcornealis	Sneddon-Wilkinson Disease
Skin Diseases, Vesiculobullous	Vesiculobullous Skin Disease

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Arrhythmogenic Right Ventricular Dysplasia 11	ARVD11
Arrhythmogenic Right Ventricular Cardiomyopathy 11	Arvc11
Arrhythmogenic Right Ventricular Dysplasia 11 With Mild Palmoplantar Keratoderma And Woolly Hair	Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, With Mild Palmoplantar Keratoderma And Woolly Hair
Familial Arrhythmogenic Right Ventricular Dysplasia 11	Arrhythmogenic Right Ventricular Dysplasia 11, Familial, And Mild Palmoplantar Keratoderma And Woolly Hair
ARVD11PK	Arvd And Mild Palmoplantar Keratoderma With Or Without Woolly Hair
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 11

Right Bundle Branch Block

Right Bundle Branch Block With Left Posterior Fascicular Block

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Meningioma, Familial

Meningioma	Familial Meningioma
Meningioma, Familial, Susceptibility To	Meningeal Neoplasm
Meningeal Neoplasms	Meningiomas
Meningioma, Nf2-Related, Somatic	Meningioma, Sis-Related
Meningothelial Cell Tumor	Neoplasm Of The Meninges
Primary Meningeal Tumor	Familial Multiple Meningioma
MNGMA	Meningioma, Benign, No Icd-O Subtype
Intracranial Meningioma	Meningothelial Cell Neoplasm
Supratentorial Meningioma	Primary Neoplasm Of Spinal Meninges
Benign Intracranial Meningioma	Benign Meningioma
Meningeal Tumours	Meningeal Sarcoma Of Unspecified Site
Meningothelial Sarcoma Of Unspecified Site

Intrinsic Cardiomyopathy

Acute Myocarditis

Epidermolysis Bullosa Simplex

Ebs	Epidermolysis Bullosa Intraepidermic
Epidermolytic Epidermolysis Bullosa

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Supine Hypotensive Syndrome

Maternal Hypotension Syndrome	Antepartum Maternal Hypotension Syndrome
Postpartum Maternal Hypotension Syndrome	Maternal Hypotension Syndrome, Antepartum Condition Or Complication
Maternal Hypotension Syndrome, Postpartum Condition Or Complication	Maternal Hypotension Syndrome, Unspecified Trimester

Pachyonychia Congenita 1

Pachyonychia Congenita	Jadassohn-Lewandowsky Syndrome
Pachyonychia Congenita Syndrome	PC1
Pachyonychia Congenita, Jadassohn-Lewandowsky Type	Congenital Pachyonychia
Pachyonychia Congenita, Type 1	Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly
Jadassohn-Lewandowsky Syndrome, Formerly	Jackson-Lawler Type Pachyonychia Congenita
Pachyonychia Congenita Type 1	Jackson-Lawler Syndrome
Jadassohn-Lewandowski Syndrome	Pc
Pachyonychia Congenita Jackson-Lawler Type	Pachyonychia Congenita Jadassohn-Lewandowsky Type
Pachyonychia Congenita Jackson Lawler Type	Pc-1
Pachyonychia Congenita, Jadassohn Lewandowsky Type	Pachyonychia Congenita, Type 2

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy	Cardiomyopathy, Restrictive
Cardiomyopathy, Constrictive	Primary Restrictive Cardiomyopathy
Rcm	Cardiomyopathy Restrictive

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy	Left Ventricular Hypertrabeculation
Lvnc	Spongy Myocardium
Isolated Noncompaction Of The Ventricular Myocardium	Left Ventricular Myocardial Noncompaction Cardiomyopathy
Fetal Myocardium	Honeycomb Myocardium
Hypertrabeculation Syndrome	Left Ventricular Non-Compaction
Lvht	Non-Compaction Of The Left Ventricular Myocardium
Ventricular Noncompaction, Left	Non-Compaction Cardiomyopathy

Cardiomyopathy, Dilated, 1e

Left Ventricular Noncompaction 9	Left Ventricular Noncompaction 5
Dilated Cardiomyopathy 1e	Dilated Cardiomyopathy 1s
CMD1E	Cdcd2
Cardiomyopathy, Dilated, 1y	CMD1Y
Cardiomyopathy, Dilated, 1s	CMD1S
Dilated Cardiomyopathy 1y	Dilated Cardiomyopathy With Conduction Defect 2
Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia	Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia
Cardiomyopathy, Dilated, With Conduction Defect 2	Cardiomyopathy Dilated With Conduction Defect Type 2
Cardiomyopathy, Dilated 1e	Cardiomyopathy, Dilated 1s
Cardiomyopathy, Dilated 1y	Left Ventricular Non-Compaction 5
LVNC5	Left Ventricular Non-Compaction 9
LVNC9	Cardiomyopathy, Dilated, Type 1e
Cardiomyopathy, Dilated, Type 1s	Cardiomyopathy, Dilated, Type 1y

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt	Catecholamine-Induced Polymorphic Ventricular Tachycardia
Familial Polymorphic Ventricular Tachycardia	Malignant Paroxysmal Ventricular Tachycardia
Multifocal Ventricular Premature Beats	Stress-Induced Polymorphic Ventricular Tachycardia
Bidirectional Tachycardia Induced By Catecholamine	Double Tachycardia Induced By Catecholamines
Polymorphic Catecholergic Ventricular Tachycardia	Syncopal Paroxysmal Tachycardia
Bidirectional Tachycardia Induced By Catecholamines	Fpvt
Bidirectional Ventricular Tachycardia Induced By Catecholamine	Polymorphic Ventricular Tachycardia Induced By Catecholamines
Ventricular Tachycardia, Catecholaminergic Polymorphic	Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
Familial Ventricular Tachycardia	Multifocal Pvcs
Multifocal Premature Ventricular Beats

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

直系同源

种属	基因名	来源	基因 ID
Felis catus	DSP	VGNC	VGNC:61640
Mus musculus	DSP	MGD	MGI:109611
Canis familiaris	DSP	VGNC	VGNC:40110
Bos taurus	DSP	VGNC	VGNC:28225
Macaca mulatta	DSP	VGNC	VGNC:72004
Rattus norvegicus	DSP	RGD	RGD:1305794
Others	DSP	NCBI

目录号	产品名	作用方式	纯度	Phase
HY-17638	Mizagliflozin	Inhibitor	99.20%	Phase 2
HY-139575A	Guretolimod hydrochloride		98.67%	Phase 2
HY-125079	DSP-2230	Inhibitor	98.33%	Phase 1
HY-111419	DSP-1053		99.75%	Phase 1
HY-111419A	DSP-1053 benzenesulfonate		/	Phase 1
HY-114300	DSP-0565	Agonist	/	Phase 1

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-118759	DSP Crosslinker		99.80%	否
HY-108652	α,β-Methylene-ATP trisodium	Agonist	99.75%	否
HY-103210	DSP-4 hydrochloride		98.0%	否
HY-156794	Enzomenib	Inhibitor	99.88%	否
HY-139575	Guretolimod	Agonist	/	否
HY-121602	DSP 4 free base		/	否
HY-134440	α,β-Methylene-ATP dilithium	Agonist	/	否
HY-134440A	α,β-Methylene-ATP	Agonist	/	否
HY-163728	DSP-6745	Modulator	/	否
HY-17638A	Mizagliflozin (sebacate)	Inhibitor	/	否
HY-RS04026	DSP Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS04027	DSPP Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-118759S	DSP Crosslinker-d8		/	否
HY-168631	Antibacterial agent 254	Inhibitor	/	否
HY-177058	DSP30	Agonist	/	否
HY-177375	dsP53-285 saRNA	Activator	/	否
HY-RS17087	Dsp Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS21329	Dspp Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS23531	Dsp Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

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DSP - desmoplakin Gene

关于 DSP

功能概要

DSP 基因产物(4)

DSP 蛋白结构

DSP 蛋白互作信息

重组 DSP 蛋白

DSP 抗体

关联疾病

直系同源

热门区域

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DSP - desmoplakin Gene

关于 DSP

功能概要

DSP 基因产物(4)

DSP 蛋白结构

DSP 蛋白互作信息

重组 DSP 蛋白

DSP 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z