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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
ATG5 - Autophagy Related 5
Alias:
ASP
APG5
APG5L
hAPG5
SCAR25
APG5-LIKE
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质,与自噬蛋白12结合,作为泛素样结合系统中的E1样激活酶。该编码的蛋白质参与多种细胞过程,包括自噬囊泡形成、氧化损伤后的线粒体质量控制、先天抗病毒免疫应答的负调控、淋巴细胞发育和增殖、MHC II抗原呈递、脂肪细胞分化和凋亡。已发现这个基因的几个转录变异体编码不同的蛋白质异构体。[RefSeq,2015年9月提供]
Related ID:
NCBI:9474
ENSEMBL:ENSG00000057663
HGNC:589
UNIPROT:Q9H1Y0
OMIM:604261
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
9474
8
8
141285 bp
32.45
9
1
8
26
ATG5 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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