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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
ASB7 - Ankyrin Repeat And SOCS Box Containing 7
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
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References Literature
这个基因编码的蛋白质属于锚定重复蛋白家族,该家族还包括其他四个蛋白质家族,它们都含有C端的SOCS盒基序。越来越多的证据表明,SOCS盒作为特定的底物结合结构域和组成大量E3泛素蛋白连接酶大家族的通用蛋白质之间的桥梁。通过这种方式,含有SOCS盒的蛋白质可以通过将蛋白质靶向多泛素化和因此靶向蛋白酶体介导的降解来调节蛋白质的寿命。已经描述了编码不同异构体的两种替代转录本。[由RefSeq,2008年7月提供]
Related ID:
NCBI:140460
ENSEMBL:ENSG00000183475
HGNC:17182
UNIPROT:Q9H672
OMIM:615052
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
140460
2
6
49113 bp
36.01
10
--
3
3
ASB7 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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