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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
AKAP8 - A-kinase Anchoring Protein 8
Alias:
AKAP-8
AKAP95
AKAP 95
AKAP-95
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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-激酶锚定蛋白家族的一员。A-激酶锚定蛋白是包含蛋白质激酶A(PKA)的RI/RII亚基结合结构域的支架蛋白,并将PKA和其他信号分子招募到细胞内的特定位置。这个基因编码一个核A-激酶锚定蛋白,与PKA的RII alpha亚基结合,可能通过将PKA和凝缩素复合体定位到染色质上,在有丝分裂期间的染色体凝缩中发挥作用。这个基因的假基因位于染色体9的短臂上。[RefSeq提供,2011年5月]
Related ID:
NCBI:10270
ENSEMBL:ENSG00000105127
HGNC:378
UNIPROT:O43823
OMIM:604692
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10270
1
14
26403 bp
76.11
80
--
5
31
AKAP8 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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