background:
This gene encodes the large subunit of DNA damage-binding protein which is a heterodimer composed of a large and a small subunit. This protein functions in nucleotide-excision repair. Its defective activity causes the repair defect in the patients with xeroderma pigmentosum complementation group E (XPE). 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. [provided by RefSeq].
Subunit:
Component of the USLVDDB complex which includes DDB1 and DDB2.
Subcellular Location:
Cytoplasm. Nucleus. Note=Primarily cytoplasmic. Translocates to the nucleus following UV irradiation and subsequently accumulates at sites of DNA damage.
Similarity:
Belongs to the DDB1 family.
Database links:
Entrez Gene: 511951 Cow
Entrez Gene: 100290337 Human
Entrez Gene: 1642 Human
Entrez Gene: 13194 Mouse
Entrez Gene: 64470 Rat
Omim: 600045 Human
SwissProt: A1A4K3 Cow
SwissProt: Q16531 Human
SwissProt: Q3U1J4 Mouse
SwissProt: Q9ESW0 Rat
Unigene: 290758 Human
Unigene: 289915 Mouse
Unigene: 466856 Mouse
Unigene: 1682 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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