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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
ASB3 - Ankyrin Repeat And SOCS Box Containing 3
Alias:
ASB-3
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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富含ankyrin重复序列和SOCS盒结构域的蛋白质家族的一员。它们包含ankyrin重复序列和SOCS盒结构域。SOCS盒的作用是将细胞因子信号抑制子(SOCS)蛋白质及其结合伴侣与elongin B和C复合体结合,可能使它们成为降解的目标。这个基因的替代剪接转录变异体已经被描述过。[由RefSeq提供,2011年1月]
Related ID:
NCBI:51130
ENSEMBL:ENSG00000115239
HGNC:16013
UNIPROT:Q9Y575
OMIM:605760
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51130
3
10
116974 bp
57.74
17
--
3
5
ASB3 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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