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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
AKAP14 - A-kinase Anchoring Protein 14
Alias:
AKAP28
PRKA14
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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。该蛋白将PKA锚定在纤毛轴丝中,从而可能在调节纤毛搏动频率中发挥作用。已表征了编码不同异型物的替代转录剪接变体。[RefSeq,2008年7月提供]
Related ID:
NCBI:158798
ENSEMBL:ENSG00000186471
HGNC:24061
UNIPROT:Q86UN6
OMIM:300462
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
158798
3
7
24824 bp
22.82
1
--
3
3
AKAP14 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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