Disease-gene associations mined from literature

Literature associating ERCC3 and hair disease

ERCC3 [ENSP00000285398]

General transcription and DNA repair factor IIH helicase subunit XPB; ATP-dependent 3'-5' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATPase activity of XPB/ERCC3, but not its helicase activity, is required for DNA opening. In transcription, TFIIH has an essential role in transcription initiation . When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape . The ATP-dependent helicase activity of XPB/ERCC3 is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription; Belongs to the helicase family. RAD25/XPB subfamily.

Synonyms:  ERCC3,  ERCC3p,  hERCC3,  A0A2R8Y4R8,  A0A2R8Y5H0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM