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中文人类
DDB2 - Damage Specific DNA Binding Protein 2
Alias:
XPE
DDBB
UV-DDB2
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这个基因编码一种对修复紫外线损伤的DNA是必需的蛋白质。这种蛋白质是参与核苷酸切除修复的异源二聚体蛋白质复合物的较小亚基，该复合物介导组蛋白H3和H4的泛素化，这有助于细胞对DNA损伤的应答。这个亚基似乎对DNA结合是必需的。这个基因的突变导致E组色素性皮肤病，这是一种隐性疾病，其特征是对紫外线敏感增加，以及皮肤癌发展的易感性增加，有时伴有神经异常。已经发现这个基因有两个转录变异体，编码不同的异构体。[由RefSeq，2014年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DDB2 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
