DDB1 gene基因表达质粒敲除编辑载体 BioVector NTCC质粒载体菌种细胞基因保藏中心

DDB1 gene基因表达质粒敲除编辑载体

DDB1 Human damage-specific DNA binding protein 1
RefSeq NM_001923.5
RefSeq Size 4221 bp
RefSeq ORF 3423 bp
Locus ID 1642
Domains CPSF_A
Protein Families Druggable Genome
Protein Pathways Nucleotide excision repair, Ubiquitin mediated proteolysis
MW 126.8 kDa
Gene Summary The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]

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