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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
ARHGEF10 - Rho Guanine Nucleotide Exchange Factor 10
Alias:
SNCV
GEF10
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个Rho鸟苷酸交换因子(GEF)。Rho GEFs通过刺激鸟苷酸二磷酸(GDP)向鸟苷酸三磷酸(GTP)的交换来调节小Rho GTPases的活性,可能参与神经形态发生。这个基因的突变与神经传导速度减慢(SNCV)有关。可变剪接导致多个转录变异体。[由RefSeq,2015年4月提供]
Related ID:
NCBI:9639
ENSEMBL:ENSG00000104728
HGNC:14103
UNIPROT:O15013
OMIM:608136
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9639
22
29
135342 bp
151.61
552
1
5
12
ARHGEF10 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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