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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
CYTH4 - Cytohesin 4
Alias:
CYT4
PSCD4
DJ63G5.1
cytohesin-4
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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PSCDA家族蛋白质的一员,该家族蛋白质具有N端螺旋卷结构,中央Sec7结构域和C端pleckstrin同源性(PH)结构域。螺旋卷结构参与同源二聚化,Sec7结构域含有鸟苷酸交换蛋白(GEP)活性,PH结构域与磷脂相互作用,并负责PSCDA与膜的结合。这个家族的成员作为ADP-核糖基化因子(ARFs)的GEP发挥作用,ARFs是参与囊泡转运途径的鸟苷酸结合蛋白。这个蛋白在体外展示了与ARF1和ARF5的GEP活性,但与ARF6无活性。已经发现这个基因的替代剪接转录变异体。[RefSeq,2015年12月提供]
Related ID:
NCBI:27128
ENSEMBL:ENSG00000100055
HGNC:9505
UNIPROT:Q9UIA0
OMIM:606514
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
27128
2
13
32834 bp
45.67
21
--
3
5
CYTH4 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
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References Literature
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