Literature associating ERCC2 and autosomal recessive disease
TFIIH basal transcription factor complex helicase XPD subunit; ATP-dependent 5'-3' DNA helicase, component of the core- TFIIH basal transcription factor. Involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers; Belongs to the helicase family. RAD3/XPD subfamily.
Synonyms: ERCC2, ERCC2p, hERCC2, A8MX75, B4E0F6 ...