核苷酸切除修復途徑是修復DNA損傷的機制。該基因編碼的蛋白參與轉錄偶聯核苷酸切除修復,是基礎轉錄因子btf2/tfiih復合物的一個不可分割的成員。該基因產物具有ATP依賴性DNA解旋酶活性,屬于解旋酶的RAD3/XPD亞家族。這種基因的缺陷可導致三種不同的疾病,即癌癥易發綜合征著色性干皮病互補組D、毛細胞增生癥和Cockayne綜合征。另外,還發現了編碼不同亞型的剪接轉錄變體。
The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.