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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
RAD23B - RAD23 Homolog B, Nucleotide Excision Repair Protein
Alias:
P58
HR23B
HHR23B
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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酵母Rad23的两个人类同源蛋白质之一,参与核苷酸切除修复(NER)。该蛋白质被发现在体外特异性补充角质症色素沉着群C(XP-c)细胞提取物的NER缺陷的蛋白质复合物组成部分。该蛋白质还被证明与3-甲基腺嘌呤-DNA糖基化酶(MPG)的核苷酸切除活性相互作用并提高其活性,这表明在碱基切除修复中在DNA损伤识别中发挥作用。该蛋白质含有N-末端泛素样结构域,据报道该结构域与26S蛋白酶体相互作用,因此该蛋白质可能涉及细胞中泛素介导的蛋白水解途径。可变剪接产生多种编码不同异质体的转录变异体。[由RefSeq,2011年9月提供]
Related ID:
NCBI:5887
ENSEMBL:ENSG00000119318
HGNC:9813
UNIPROT:P54727
OMIM:600062
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5887
3
10
48916 bp
43.17
16
--
1
38
RAD23B 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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