ADCY6 - adenylate cyclase 6 Gene

中文名称：腺苷酸环化酶 6

种属: Homo sapiens

同用名: AC6; LCCS8

基因 ID: 112 | 基因类型: protein coding

关于 ADCY6

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:48,766,194-48,789,961 (from NCBI)

This gene has 9 transcripts (splice variants), 271 orthologues, 17 paralogues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 25.0), heart (RPKM 17.1) and 23 other tissues.

功能概要

该基因编码腺苷酸环化酶蛋白质家族的成员，这是合成环 AMP 所必需的。该家族的所有成员都有一个细胞内 N 末端、由细胞质环分隔的六个跨膜结构域的串联重复序列和一个 C 末端细胞质结构域。这两个细胞质区域结合 ATP 并形成蛋白质的催化核心。腺苷酸环化酶是跨膜信号通路的重要效应物，受 G 蛋白偶联受体信号通路活性的调节。这种蛋白质属于腺苷酸环化酶蛋白质的一个小亚类，它们在功能上相关，并被蛋白激酶 A、钙离子和一氧化氮抑制。该基因的突变与先天性多发性关节挛缩有关。[RefSeq 提供，2015 年 5 月]

This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]

ADCY6 基因产物(7)

mRNA	Protein	Name
NM_001390830.1	NP_001377759.1	adenylate cyclase type 6 isoform 2
NM_001390831.2	NP_001377760.1	adenylate cyclase type 6 isoform 1
NM_001412819.1	NP_001399748.1	adenylate cyclase type 6 isoform 1
NM_001412820.1	NP_001399749.1	adenylate cyclase type 6 isoform 1
NM_001412821.1	NP_001399750.1	adenylate cyclase type 6 isoform 1
NM_001412822.1	NP_001399751.1	adenylate cyclase type 6 isoform 1
NM_015270.5	NP_056085.1	adenylate cyclase type 6 isoform 1

ADCY6 蛋白结构

Guanylate_cyc

DUF1053

Guanylate_cyc

0
200
400
600
800
1000
1168 a.a.

蛋白主名

其他名称

adenylate cyclase type 6

ATP pyrophosphate-lyase 6

关联疾病

疾病名称

别名

Lethal Congenital Contracture Syndrome 8

LCCS8

Contracture Syndrome, Lethal, Congenital, Type 8

Hypomyelination Neuropathy-Arthrogryposis Syndrome

Lethal Congenital Contracture Syndrome

Lccs	Lethal Congenital Contracture Syndrome 1

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency

Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency	Muscular Dystrophy, Congenital, Due To Itga7 Deficiency
Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency	Congenital Muscular Dystrophy With Itga7 Deficiency
Congenital Myopathy Due To Integrin Alpha-7 Deficiency	Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular Dystrophy Congenital Due To Integrin Alpha-7 Deficiency	MDCI
Dystrophy, Muscular, Congenital, Due To Integrin Alpha-7 Deficiency

Polycystic Liver Disease

Autosomal Dominant Polycystic Liver Disease	Isolated Polycystic Liver Disease
Pcld	Congenital Cystic Liver Disease
Congenital Hepatic Cyst	Fibrocystic Liver Disease
Isolated Autosomal Dominant Polycystic Liver Disease	Adpcld
Liver Disease, Polycystic	Multiple Cysts Of Liver
Pld - [Polycystic Liver Disease]	Polycystic Liver Disorder
Polycystic Liver	Congenital Polycystic Disease Of Liver
Congenital Polycystic Liver Disease

Nephrogenic Diabetes Insipidus

Vasopressin-Resistant Diabetes Insipidus	Diabetes Insipidus, Nephrogenic
Diabetes Insipidus Nephrogenic	Congenital Nephrogenic Diabetes Insipidus
Adh Resistant Diabetes Insipidus	Diabetes Insipidus Nephrogenic X-Linked
Diabetes Insipidus Nephrogenic Type 1	Adh-Resistant Diabetes Insipidus
Diabetes Insipidus Renalis	Ndi
Renal Diabetes Insipidus	Familial Nephrogenic Diabetes
Antidiuretic-Hormone-Resistant Diabetes Insipidus	Adiuretin-Resistant Diabetes Insipidus
Ndi - [Nephrogenic Diabetes Insipidus]	Diabetes Tenuifluus
Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus	Hereditary Nephrogenic Diabetes Insipidus
Familial Nephrogenic Diabetes Insipidus	Primary Nephrogenic Diabetes Insipidus

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type	Adpkd
Polycystic Kidney Diseases	Polycystic Kidney, Autosomal Dominant
Congenital Biliary Ectasias	Polycystic Kidney And Hepatic Disease 1
Polycystic Kidney Disease, Autosomal Dominant	Kidney, Polycystic, Disease, Autosomal Dominant
Adult Polycystic Kidney Disease	Polycystic Kidney, Adult Type
Apckd - [Autosomal Polycystic Kidney Disease]

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease	Arpkd
Polycystic Kidney Disease, Autosomal Recessive	Polycystic Kidney And Hepatic Disease 1
Pkhd1	PKD4
Polycystic Kidney Disease 4 With Or Without Hepatic Disease	Polycystic Kidney Disease, Infantile, Type I
Polycystic Kidney Disease, Infantile Type	Polycystic Kidney, Autosomal Recessive
Pkd3, Formerly	Polycystic Kidney Disease 4, With Or Without Hepatic Disease
Arpkd/Chf	Ar-Pkd
Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease	Infantile Polycystic Kidney Disease Type I
Pkd3	Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease
Polycystic Kidney Disease 3, Autosomal Dominant

Cystic Kidney Disease

Renal Cyst	Simple Renal Cyst
Kidney Cysts	Kidney Diseases, Cystic
Renal Cysts	Kidney Cyst
Cystic Kidney	Congenital Cystic Kidney Disease
Cystic Kidney Diseases	Bosniak 1 Cyst

Polycystic Kidney Disease

Polycystic Kidney Diseases	Pkd
Polycystic Renal Disease	Kidney Disease, Polycystic
Polycystic Kidney, Autosomal Dominant

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00332	ADCY6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	ADCY6	VGNC	VGNC:37623
Felis catus	ADCY6	VGNC	VGNC:59619
Mus musculus	ADCY6	MGD	MGI:87917
Bos taurus	ADCY6	VGNC	VGNC:25647
Macaca mulatta	ADCY6	VGNC	VGNC:69514
Rattus norvegicus	ADCY6	RGD	RGD:2035

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

ADCY6 - adenylate cyclase 6 Gene

关于 ADCY6

功能概要

ADCY6 基因产物(7)

ADCY6 蛋白结构

关联疾病

直系同源

热门区域

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ADCY6 - adenylate cyclase 6 Gene

关于 ADCY6

功能概要

ADCY6 基因产物(7)

ADCY6 蛋白结构

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