Sequence of this protein is as follows: MRELKRTLDA KGHGVLEMPS GTGKTVSLLA LIMAYQRAYP LEVTKLIYCS RTVPEIEKVI EELRKLLNFY EKQEGEKLPF LGLALSSRKN LCIHPEVTPL RFGKDVDGKC HSLTASYVRA QYQHDTSLPH CRFYEEFDAH GREVPLPAGI YNLDDLKALG RRQGWCPYFL ARYSILHANV VVYSYHYLLD PKIADLVSKE LARKAVVVFD EAHNIDNVCI DSMSVNLTRR TLDRCQGNLE TLQKTVLRIK ETDEQRLRDE YRRLVEGLRE ASAARETDAH LANPVLPDEV LQEAVPGSIR TAEHFLGFLR RLLEYVKWRL RVQHVVQESP PAFLSGLAQR VCIQRKPLRF CAERLRSLLH TLEITDLADF SPLTLLANFA TLVSTYAKGQ AQHCGSSRNQ KRSHP
XPD is involved with the nucleotide excision repair pathway that 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.
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Protein Aliases: Basic transcription factor 2 80 kDa subunit; BTF2 p80; CXPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; excision repair cross-complementation group 2; excision repair cross-complementing rodent repair deficiency, complementation group 2; General transcription and DNA repair factor IIH helicase subunit XPD; MGC102762; MGC126218; MGC126219; TFIIH 80 kDa subunit; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH basal transcription factor complex helicase subunit; TFIIH basal transcription factor complex helicase XPB subunit; TFIIH p80; TFIIH subunit XPD; xeroderma pigmentosum complementary group D; Xeroderma pigmentosum group D-complementing protein
Gene Aliases: COFS2; EM9; ERCC2; TFIIH; TTD; TTD1; XPD; XPDC
UniProt ID: (Human) P18074
Entrez Gene ID: (Human) 2068
Molecular Function: DNA helicase