Ddb1 (human) recombinant (partial p rotein gst tag) 10 µg

This gene encodes the large subunités of DNA damage-binding protein which is a heterodimer composed of a large and a small subunités. 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 subunités. 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]