Log In|Sign Up
中文人类
ERCC2 - ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit
Alias:
EM9
TTD
XPD
TTD1
COFS2
TFIIH
Favorite
核苷酸切除修复途径是一种修复DNA损伤的机制。这个基因编码的蛋白质参与转录偶联核苷酸切除修复，是基质转录因子BTF2/TFIIH复合物的组成部分。该基因产物具有ATP依赖的DNA解旋酶活性，并属于解旋酶RAD3/XPD亚家族。这个基因的缺陷可能导致三种不同的疾病，易患癌症的干燥症色素沉着症互补组D、毛发硫磺素营养不良和Cockayne综合症。已发现这个基因的不同剪接转录变异体编码不同的异构体。[RefSeq，2008年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ERCC2 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
