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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
GABARAP - GABA Type A Receptor-associated Protein
Alias:
MM46
ATG8A
GABARAP-a
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
伽马-氨基丁酸A受体(GABA(A)受体)是结合配体的氯通道,调节抑制性神经传递。这个基因编码GABA(A)受体相关蛋白,其N端具有高度正电荷,并与微管相关蛋白1A和1B的轻链3共享序列相似性。这个蛋白通过调节与细胞骨架的相互作用来聚集神经递质受体。[RefSeq提供,2008年7月]
Related ID:
NCBI:11337
ENSEMBL:ENSG00000170296
HGNC:4067
UNIPROT:O95166
OMIM:605125
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
11337
1
4
2442 bp
13.92
1
--
5
42
GABARAP Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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