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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
AKAP9 - A-kinase Anchoring Protein 9
Alias:
LQT11
PRKA9
AKAP-9
CG-NAP
YOTIAO
AKAP350
AKAP450
PPP1R45
HYPERION
MU-RMS-40.16A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
A-激酶锚定蛋白(AKAPs)是一组结构上多样化的蛋白质,它们的共同功能是与蛋白激酶A(PKA)的调节亚基结合,并将全酶限制在细胞内的特定位置。这个基因编码AKAP家族的一员。这个基因的交替剪接至少产生了两种异构体,它们定位于中心体和高尔基器,并与来自多个信号传导途径的许多信号蛋白相互作用。这些信号蛋白包括II型蛋白激酶A、丝氨酸/苏氨酸激酶蛋白激酶N、蛋白磷酸酶1、蛋白磷酸酶2a、蛋白激酶C-epsilon和磷酸二酯酶4D3。[由RefSeq,2008年8月提供]
Related ID:
NCBI:10142
ENSEMBL:ENSG00000127914
HGNC:379
UNIPROT:Q99996
OMIM:604001
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10142
3
50
169812 bp
452.99
2382
3
7
28
AKAP9 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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