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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
AKAP7 - A-kinase Anchoring Protein 7
Alias:
AKAP15
AKAP18
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码A-激酶锚定蛋白(AKAP)家族的一员,该家族是一组与cAMP依赖的蛋白激酶A(PKA)的调节亚单位(RII)结合的功能相关蛋白质,并将酶靶向到特定的亚细胞区室。AKAPs具有共同的RII结合结构域,但包含不同的定位基序,负责将PKA引导到不同的细胞内位置。已经描述了编码不同异构体的三种可变剪接转录变异体。[由RefSeq,2011年4月提供]
Related ID:
NCBI:9465
ENSEMBL:ENSG00000118507
HGNC:377
UNIPROT:O43687
OMIM:604693
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9465
21
8
157906 bp
11.46
9
--
7
8
AKAP7 Genetics information (+)
GRCh38
Sequence Homology
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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