GTF2H5

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. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell.

Trichothiodystrophy 3, photosensitive

TTD3

A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the TFB5 family.

• Nucleus
• Cytoplasm

C6orf175, TTDA, GTF2H5, General transcription factor IIH subunit 5, General transcription factor IIH polypeptide 5, TFB5 ortholog, TFIIH basal transcription factor complex TTD-A subunit, TFIIH subunit p8

• entrezGene:404672
• omim:608780
• swissprot:Q6ZYL4

Proteins

8053Da