DISEASES

Disease-gene associations mined from literature

Literature associating GTF2H1 and photosensitive trichothiodystrophy

GTF2H1 [ENSP00000265963]

General transcription factor IIH subunit 1; 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. 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. 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.

Synonyms:  GTF2H1,  GTF2H1p,  hGTF2H1,  A0A384MTQ8,  E9PI26 ...

Linkouts:  STRING  Pharos  UniProt  OMIM