DDB1 Chromosome 11
Damage specific DNA binding protein 1
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What This Gene Does
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]
Gene Info
Gene Group
Nucleotide excision repair
Locus Type
gene with protein product
Location
11q12.2
Ensembl
ENSG00000167986
Associated Conditions (2)
White-Kernohan syndrome
Neurodevelopmental delay
Key Variants
RS2134935103
Conflicting classifications of pathogenicity
White-Kernohan syndrome, White-Kernohan syndrome
Health Risk
RS1231861984
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS2134934938
Likely pathogenic
White-Kernohan syndrome, White-Kernohan syndrome
Health Risk
RS2134916397
Pathogenic
White-Kernohan syndrome, White-Kernohan syndrome
Health Risk
RS2134935097
Pathogenic
White-Kernohan syndrome, White-Kernohan syndrome
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2134935103 | Health Risk | Conflicting classifications of pathogenicity | White-Kernohan syndrome, White-Kernohan syndrome |
| RS1231861984 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2134934938 | Health Risk | Likely pathogenic | White-Kernohan syndrome, White-Kernohan syndrome |
| RS2134916397 | Health Risk | Pathogenic | White-Kernohan syndrome, White-Kernohan syndrome |
| RS2134935097 | Health Risk | Pathogenic | White-Kernohan syndrome, White-Kernohan syndrome |