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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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人类
AKAP4 - A-kinase Anchoring Protein 4
Alias:
HI
p82
CT99
FSC1
PRKA4
AKAP-4
AKAP82
AKAP 82
hAKAP82
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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)是一组结构多样的蛋白质,共同作用是结合蛋白激酶A(PKA)的调节亚基,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。编码的蛋白质定位在精子鞭毛上,可能参与精子活力的调节。这个基因的可变剪接导致两种转录变异体,编码不同的异构体。[RefSeq,2008年7月提供]
Related ID:
NCBI:8852
ENSEMBL:ENSG00000147081
HGNC:374
UNIPROT:Q5JQC9
OMIM:300185
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8852
2
6
10231 bp
94.48
25
1
3
6
AKAP4 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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