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中文人类
ERCC8 - ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit
Alias:
CSA
CKN1
UVSS2
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这个基因编码一个WD重复蛋白，可以与Cockayne综合症B型(CSB)蛋白和p44蛋白相互作用，p44蛋白是RNA聚合酶II转录因子IIH的亚基。这个基因的突变已经在患有遗传性疾病Cockayne综合症(CS)的患者中被发现。CS细胞对紫外线异常敏感，且在修复转录活性基因方面有缺陷。已经发现这个基因的几个转录变异体，编码不同的异构体。[RefSeq,2014年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ERCC8 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
