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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
ASB2 - Ankyrin Repeat And SOCS Box Containing 2
Alias:
ASB-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
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References Literature
这个基因编码一个ankyrin重复序列和SOCS盒结构域(ASB)蛋白家族的成员。这些蛋白通过将细胞因子信号抑制子(SOCS)蛋白与elongin BC复合物结合,参与蛋白质降解过程。编码的蛋白是多聚E3泛素连接酶复合物的亚单位,该复合物介导肌动蛋白结合蛋白的降解。这个基因在视黄酸诱导的髓系白血病细胞生长抑制和分化中发挥作用。已经观察到这个基因的替代剪接转录变异体编码多种异构体。[RefSeq提供,2011年1月]
Related ID:
NCBI:51676
ENSEMBL:ENSG00000100628
HGNC:16012
UNIPROT:Q96Q27
OMIM:605759
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Related Mouse Models
Reference
51676
7
10
42405 bp
70.21
35
--
6
18
ASB2 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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References Literature
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No Data Found!
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