1. Gene
  2. LORICRIN - loricrin cornified envelope precursor protein Gene

LORICRIN - loricrin cornified envelope precursor protein Gene

中文名称:Loricrin 角化包膜前体蛋白

种属: Homo sapiens

同用名: LOR

基因 ID: 4014 | 基因类型: protein coding

关于 LORICRIN

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:153,259,687-153,262,124 (from NCBI)

This gene has 1 transcript (splice variant), 2 orthologues and is associated with 4 phenotypes. Restricted expression toward skin (RPKM 135.8).

功能概要

该基因编码 loricrin,一种在终末分化表皮细胞中发现的角化细胞包膜的主要蛋白质成分。该基因的突变与 Vohwinkel 综合征和进行性对称性红斑角化病有关,这两种遗传性皮肤病。[RefSeq 提供,2008 年 7 月]

This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [provided by RefSeq, Jul 2008]

LORICRIN 基因产物(1)

mRNA Protein Name
NM_000427.3 NP_000418.2 loricrin
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
7592852 GOA
enables structural constituent of skin epidermis IDA
IDA: 通过直接分析推断
7543090 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in keratinocyte differentiation IDA
IDA: 通过直接分析推断
10908733 GOA
involved in peptide cross-linking IDA
IDA: 通过直接分析推断
10908733 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cornified envelope IDA
IDA: 通过直接分析推断
7543090 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
11698679 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
蛋白主名 其他名称

loricrin

LORICRIN 抗体

目录号 产品名 应用 反应物种
HY-P83278 Loricrin Antibody (YA3023) WB, IHC-P Human
HY-P87183 Loricrin Antibody(YA6872) IHC-P, IF-Tissue Human, Mouse, Rat

关联疾病

疾病名称 别名
Vohwinkel Syndrome, Variant Form

Vohwinkel Syndrome With Ichthyosis

Loricrin Keratoderma

Mutilating Keratoderma With Ichthyosis

Keratoderma Hereditarium Mutilans With Ichthyosis

Camisa Disease

Keratoderma-Ichthyosiform Dermatosis-Elevated Beta-Glucuronidase Syndrome

VSI

Lk

Vohwinkel Syndrome Variant Form

Vohwinkel Syndrome

Mutilating Keratoderma

Keratoderma Hereditarium Mutilans

Khm

VOWNKL

Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes

Mutilating Keratoderma Of Vohwinkel

Mutilating Keratoderma Plus Deafness

Ppk Mutilans And Deafness

Congenital Deafness With Keratopachydermia And Constrictions Of Fingers And Toes

Congenital Deafness With Keratopachydermia And Constrictions Fo Fingers And Toes

Palmoplantar Keratoderma Mutilans

Palmoplantar Keratoderma Mutilans Vohwinkel

Ppk Mutilans Vohwinkel

Mutilating Keratoderma Plus Hearing Loss

Ppk Mutilans And Hearing Loss

Erythrokeratoderma
Ichthyosis Vulgaris

Ichthyosis Simplex

Dominant Congenital Ichthyosiform Erythroderma

Common Ichthyosis

Fish Scale Disease

VI

Ichthyoses

Congenital Ichthyosis

Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis

Erythrokeratodermia Variabilis Et Progressiva

Greither Disease

Ekv

Ekvp

PSEK

Erythrokeratodermia Variabilis With Erythema Gyratum Repens

Keratosis Palmoplantaris Transgrediens Et Progrediens

Transgrediens Et Progrediens Palmoplantar Keratoderma

EKVP1

Erythrokeratodermia, Progressive Symmetric

Erythrokeratodermia Figurata, Congenital Familial, In Plaques

Keratoderma Palmoplantaris Transgrediens

Keratosis Extremitatum Hereditaria Progrediens

Erythrokeratodermia Variabilis, Mendes Da Costa Type

Progressive Symmetric Erythrokeratodermia

Erythrokeratodermia Figurata Variabilis

Greither'S Disease

Ekv-P

Erythrokeratodermia Variabilis Of Mendes Da Costa

Progressive Symmetrical Erythrokeratoderma Of Gottron

Progressive Diffuse Ppk

Progressive Diffuse Palmoplantar Keratoderma

Transgrediens Et Progrediens Ppk

Darier-Gottron Disease

Erythrokeratodermia Progressiva Symmetrica

Progressive Symmetric Erythrokeratodermia, Gottron Type

Congenital Familial Erythrokeratodermia Figurata In Plaques

Erythrokeratodermia Progressive Symmetric

Erythrokeratodermia Variabilis Mendes Da Costa Type

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis

Congenital Ichthyosiform Erythroderma

Li

Congenital Nonbullous Ichthyosiform Erythroderma

Arci

Congenital Lamellar Ichthyosis

Nonbullous Congenital Ichthyosiform Erythroderma

Cie

Congenital Non-Bullous Ichthyosiform Erythroderma

Erythrodermic Ichthyosis

Nbcie

Ncie

Non-Bullous Congenital Ichthyosiform Erythroderma

Collodion Baby

Ichthyosis, Lamellar

Non Bullous Congenital Ichthyosiform Erythroderma

Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Collodion Baby Syndrome

Ichthyoses, Lamellar

Nbie

Nonbullous Ichthyosiform Erythroderma

Classic Lamellar Ichthyosis

Ichthyosiform Erythroderma Nonbullous Congenital

Ichthyosiform Erythroderma Congenital

Ichthyosis, Congenital, Autosomal Recessive

Ichthyosiform Erythroderma, Congenital

Collodion Fetus

Non-Bullous Ichthyosiform Erythroderma

Porokeratosis

Disseminated Superficial Actinic Porokeratosis

Dsap

Porokeratosis Of Mibelli

Porokeratosis, Disseminated Superficial Actinic

Porokeratosis, Disseminated Superficial Actinic, 1

Molluscum Contagiosum

Water Warts

Molluscum Verrucosum

Pseudoainhum
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

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Ainhum

Dactylolysis Spontanea

Spontaneous Dactylolysis

Keratosis

Actinic Keratosis

Hyperkeratosis

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

Irritant Dermatitis

Irritant Contact Dermatitis

Primary Irritant Dermatitis

Dermatitis, Irritant

Contact Dermatitis, Irritant

Irritant Contact Eczema

Icd - [Irritant Contact Dermatitis]

Irritant Contact Dermatitis, Unspecified Cause

Non-Allergic Contact Dermatitis

Irritant Contact Eczema Due To Wet Work

Irritant Contact Dermatitis Due To Detergents

Irritant Contact Eczema Due To Solvents

Irritant Contact Eczema Due To Exposure To Acids, Alkalis Or Other Chemical Irritants

Irritant Contact Eczema Due To Cosmetics Or Emollients

Irritant Contact Eczema Due To Topical Medicaments Or Antimicrobials

Irritant Contact Eczema Due To Plants Or Other Vegetable Matter

Irritant Contact Eczema Due To Foods

Irritant Contact Eczema Due To Friction, Sweating Or Contact With Body Fluids

Irritant Contact Eczema Due To Saliva

Irritant Contact Eczema Due To Incontinence

Incontinence-Associated Dermatitis

Oral Submucous Fibrosis

Oral Submucosal Fibrosis, Including Of Tongue

Osmf

Oral Cavity Submucous Fibrosis

Oral Submucosal Fibrosis

Submucosal Fibrosis

Cicatricial Lagophthalmos
Adermatoglyphia

ADERM

Immigration Delay Disease

Absence Of Fingerprints

Adg

Congenital Absence Of Fingerprints

Isolated Congenital Adermatoglyphia

Fingerprints, Absence Of

Skin Abnormalities

Epidermolysis Bullosa Simplex

Ebs

Epidermolysis Bullosa Intraepidermic

Epidermolytic Epidermolysis Bullosa

Dermatitis, Atopic

Atopic Dermatitis

Atopic Eczema

Dermatitis, Atopic, Susceptibility To, 1

Atod

Eczema, Atopic

Dermatitis, Atopic 1

Allergic Dermatitis

Atopic Neurodermatitis

Besnier'S Prurigo

Dermatitis, Atopic, 1

Dermatitis Atopic

Eczema

Besnier Prurigo

Psoriasis
Epidermolysis Bullosa

Acantholysis Bullosa

Eb

Dermatitis

Eczema

Skin Inflammation

Inflammatory Dermatosis

Eczema Herpeticum

Herpes Simplex Dermatitis

Herpes Simplex Eyelid Dermatitis

Kaposi Varicelliform Eruption

Herpes Simplex Dermatitis Of Eyelid

Herpes Simplex Virus Dermatitis

Herpes Simplex Virus Eyelid Dermatitis

Skin Papilloma

Cutaneous Papilloma

Papilloma Of Skin

Papilloma Skin

Ichthyosis, Congenital, Autosomal Recessive 4b

Harlequin Ichthyosis

Autosomal Recessive Congenital Ichthyosis 4b

Hi

Harlequin Fetus

ARCI4B

Ichthyosis Congenita, Harlequin Fetus Type

Harlequin Type Ichthyosis

'Harlequin Fetus'

Harlequin Type Ichthyosis Congenita

Harlequin Type Ichthyosis Fetalis

Harlequin Baby Syndrome

Ichthyosis Congenita, Harlequin Type

Ichthyosis Fetalis, Harlequin Type

Ichthyosis Congenita Harlequin Fetus Type

Ichthyosis, Harlequin

Ichthyosis, Congenital, Autosomal Recessive, Type 4b

Peeling Skin Syndrome

Deciduous Skin

Familial Continuous Skin Peeling Syndrome

Idiopathic Deciduous Skin

Keratosis Exfoliativa Congenita

Pss

Peeling Skin Disease

Skin Peeling Syndrome

Familial Continuous Skin Peeling

Keratolysis Exfoliativa Congenita

Exfoliation Syndrome

Keratolysis Exfoliativa

Psoriasis 4

PSORS4

Psoriasis Susceptibility 4

Psoriasis 4, Susceptibility To

Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome

Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques

Palmoplantar And Periorificial Keratoderma

Olms

Contact Dermatitis

Contact Dermatitis/Eczema

Contact Eczema

Dermatitis Venenata

Dermatitis, Venenata

Dermatitis Contact

Dermatitis, Contact

Ichthyosis, Congenital, Autosomal Recessive 4a

Ichthyosis Congenita Iib

Icr2b

Autosomal Recessive Congenital Ichthyosis 4a

ARCI4A

Lamellar Ichthyosis 2

Li2

Ichthyosis, Lamellar, 2, Formerly

Li2, Formerly

Ichthyosis Lamellar 2

Lamellar Ichthyosis, Type 2

Ichthyosis, Lamellar 2

Ichthyosis, Congenital, Autosomal Recessive, Type 4a

Allergic Contact Dermatitis

Dermatitis, Allergic Contact

Contact Dermatitis, Allergic

Dermatitis Allergic Contact

Allergic Contact Eczema

Acd - [Allergic Contact Dermatitis]

Allergic Contact Dermatitis, Unspecified Cause

Allergic Dermatitis

Allergic Eczema

Allergy Dermatitis

Allergy Eczema

Allergic Contact Eczema Due To Clothing Or Footwear

Perfume Allergic Contact Dermatitis

Allergic Contact Dermatitis Due To Cosmetics

Allergic Contact Eczema Due To Cosmetics Or Fragrances

Allergic Contact Eczema Due To Dental Materials

Allergic Contact Eczema Due To Food Flavours Or Additives

Allergic Contact Eczema Due To Hairdressing Products

Allergic Contact Eczema Due To Metals Or Metal Salts

Allergic Contact Eczema Due To Proteins

Allergic Contact Eczema Due To Plastics Or Resin Systems

Allergic Contact Eczema Due To Preservatives Or Biocides

Allergic Contact Eczema Due To Rubber Chemicals

Rubber Dermatitis

Allergic Contact Eczema Due To Systemic Medicaments

Allergic Contact Eczema Due To Topical Medicaments

Allergic Contact Dermatitis Due To Drugs In Contact With Skin

Seborrheic Dermatitis

Seborrhoeic Dermatitis

Seborrhea

Seborrhoeic Eczema

Skin Seborrheic

Dermatitis, Seborrheic

Skin Atrophy

Atrophic Condition Of Skin

Atrophoderma

Atrophy - Skin

Recessive Dystrophic Epidermolysis Bullosa

Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis

Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type

Rdeb, Hallopeau-Siemens Type

Severe Generalized Rdeb

Severe Generalized Recessive Dystrophic Epidermolysis Bullosa

Rdeb Generalisata Gravis

Rdeb, Severe Generalized

Rdeb-Sev Gen

Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized

Hallopeau-Siemens Disease

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

Hair Disease

Hair Diseases

Hair Anomaly

Hair Disorder

Hair Problems

Autoimmune Disease Of Skin And Connective Tissue
Actinic Keratosis

Solar Keratosis

Actinic Keratosis

Senile Hyperkeratosis

Sk - Solar Keratosis

Keratosis, Actinic

Seborrheic Keratosis

Ak - [Actinic Keratosis]

Sk - [Solar Keratosis]

Integumentary System Disease
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus LORICRIN RGD RGD:1559993
Mus musculus LORICRIN MGD MGI:96816
Bos taurus LORICRIN VGNC VGNC:55248