Gene ERCC2
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Also known as
XPD, COFS2, EM9, TTD, TTD1, excision repair cross-complementing 2Overview
ERCC2 (Excision Repair Cross-Complementing 2) encodes XPD, a helicase essential for nucleotide excision repair (NER) and transcription as part of the TFIIH complex. This dual role means ERCC2 is critical for both DNA repair and gene expression, making it essential for cellular survival and genome stability.Mutations in ERCC2 cause several distinct diseases depending on severity: xeroderma pigmentosum group D (XP-D) with extreme sun sensitivity and skin cancer, trichothiodystrophy (TTD) with brittle hair and developmental abnormalities, and Cockayne syndrome with neurodegeneration. Common polymorphisms have been studied for associations with cancer risk and response to platinum chemotherapy.
Understanding your ERCC2 genetic status provides insights into DNA repair capacity and UV sensitivity. This gene is relevant for understanding skin cancer risk, photoaging susceptibility, and potentially for predicting response to DNA-damaging cancer therapies.