Xeroderma Pigmentosum, Complementation Group D (XPD)

CXPD; BTF2 p80; EM9; TTD; ERCC2; TFIIH basal transcription factor complex 80 kDa; De Sanctis-Cacchione; Excision Repair Cross-Complementing Rodent Repair Deficiency 2

SPN	U830
HGNC	3434
MGI	95413
PubMed	1729695
UniProt	P18074
Wiki	ERCC2

ERCC2, or XPD is a protein involved in transcription-coupled nucleotide excision repair.The XPD (ERCC2) gene encodes for a 2.3-kb mRNA containing 22 exons and 21 introns. The XPD protein is a 760 amino acids polypeptide with a size of 87kDa. Defects in this gene can result in three different disorders: the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome.

Just like XPB, XPD is also a part of human transcriptional initiation factor TFIIH and has ATP-dependent helicase activity. It belongs to the RAD3/XPD subfamily of helicases.XPD is essential for the viability of cells. Deletion of XPD in mice is embryonic lethal.

Reference

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"Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH."
Nat. Genet. 20:184-188(1998) [PubMed] [Europe PMC] [Abstract]

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Science 337:243-245(2012) [PubMed] [Europe PMC] [Abstract]

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"Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy."
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Nat. Genet. 27:299-303(2001) [PubMed] [Europe PMC] [Abstract]