2. Gene
  3. AKAP6 - A-kinase anchoring protein 6 Gene

AKAP6 - A-kinase anchoring protein 6 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：A-激酶锚定蛋白 6

种属: Homo sapiens

同用名: ADAP6; PRKA6; mAKAP; ADAP100; AKAP100

基因 ID: 9472 | 基因类型: protein coding

关于 AKAP6

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:32,329,298-32,837,684 (from NCBI)

This gene has 15 transcripts (splice variants), 204 orthologues and 1 paralogue. Biased expression in brain (RPKM 9.8), heart (RPKM 7.6) and 12 other tissues.

功能概要

激酶锚定蛋白 (AKAP) 是一组结构多样的蛋白质，它们具有与蛋白激酶 A (PKA) 的调节亚基结合并将全酶限制在细胞内离散位置的共同功能。该基因编码 AKAP 家族的一个成员。编码的蛋白质在各个大脑区域以及心肌和骨骼肌中高度表达。它特别定位于肌质网和核膜，并参与将 PKA 锚定到核膜或肌质网。[RefSeq 提供，2008 年 7 月]

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]

AKAP6 基因产物(1)

mRNA Protein Name
NM_004274.5 NP_004265.3 A-kinase anchor protein 6
蛋白主名 其他名称

A-kinase anchor protein 6

A kinase (PRKA) anchor protein 6

关联疾病

疾病名称 别名
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Catecholaminergic Polymorphic Ventricular Tachycardia 2

CPVT2

Vtsip

Bidirectional Tachycardia

Stress-Induced Polymorphic Ventricular Tachycardia

Ventricular Tachycardia, Stress-Induced Polymorphic

Cvpt2

Double Tachycardia Induced By Catecholamines

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Paroxysmal Ventricular Fibrillation

Syncopal Paroxysmal Tachycardia

Syncopal Tachyarythmia

Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 2

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Paroxysmal Familial Ventricular Fibrillation
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy

Catecholaminergic Polymorphic Ventricular Tachycardia 1

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

CPVT1

Ventricular Tachycardia, Stress-Induced Polymorphic

Vtsip

Bidirectional Tachycardia

Stress-Induced Polymorphic Ventricular Tachycardia

Cvpt1

Double Tachycardia Induced By Catecholamines

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Paroxysmal Ventricular Fibrillation

Syncopal Paroxysmal Tachycardia

Syncopal Tachyarythmia

Ventricular Tachycardia Catecholaminergic Polymorphic 1

Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 1

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Paroxysmal Familial Ventricular Fibrillation

Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00521 AKAP6 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus AKAP6 VGNC VGNC:25787
Macaca mulatta AKAP6 VGNC VGNC:69771
Canis familiaris AKAP6 VGNC VGNC:37759
Mus musculus AKAP6 MGD MGI:3050566
Felis catus AKAP6 VGNC VGNC:59716
Rattus norvegicus AKAP6 RGD RGD:69412
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