DDB2 is also known as Damage-specific DNA binding protein 2, DDB p48 subunit, DDBb, UV-damaged DNA-binding protein 2 and UV-DDB 2. The DDB2 gene encodes the small subunit (p48) of DNA damage-binding protein, which is a heterodimer, composed of a large (p127 DDB1) and a small subunit. The DDB2 subunit appears to be required for DNA binding. This nuclear protein functions in nucleotide-excision repair resulting from UV-damaged DNA by binding to pyrimidine dimers. Its defective activity causes the repair defect in the patients with xeroderma pigmentosum complementation group E (XPE). XP-E is a rare human autosomal recessive disease characterized by solar sensitivity, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the large subunit.
Synonyms: damage-specific DNA binding protein 2 antibody, UV-DDB 2 antibody