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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
SOX10 - SRY-box Transcription Factor 10
Alias:
DOM
WS4
PCWH
WS2E
WS4C
SOX-10
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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SOX(SRY相关HMG-盒)家族转录因子成员,参与调控胚胎发育和细胞命运决定。编码的蛋白质可能在与其他蛋白质形成蛋白质复合物后作为转录激活子发挥作用。这个蛋白质作为核质穿梭蛋白,对神经嵴和外周神经系统发育非常重要。这个基因的突变与Waardenburg-Shah和Waardenburg-Hirschsprung疾病有关。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6663
ENSEMBL:ENSG00000100146
HGNC:11190
UNIPROT:P56693
OMIM:602229
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6663
1
4
12244 bp
49.91
349
8
25
19
SOX10 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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