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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
ARFGAP1 - ADP Ribosylation Factor GTPase Activating Protein 1
Alias:
ARF1GAP
HRIHFB2281
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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是一种GTP酶激活蛋白,与高尔基体相关并相互作用于ADP-核糖基化因子1。该编码蛋白质促进ADP-核糖基化因子1结合的GTP的水解,并且对于外套蛋白从高尔基来源的膜和囊泡上解离是必需的。外套蛋白的解离对于这些囊泡与目标区室融合是必需的。该蛋白质的活性受磷酸肌醇激酶刺激,并被磷脂酰胆碱抑制。可变剪接导致多个转录变异体。[RefSeq,2013年7月提供]
Related ID:
NCBI:55738
ENSEMBL:ENSG00000101199
HGNC:15852
UNIPROT:Q8N6T3
OMIM:608377
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55738
13
13
16978 bp
44.67
30
--
2
14
ARFGAP1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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