General Transcription Factor IIH Subunit 5 (IIH) Antibody – Rabbit Polyclonal

This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]

GTF2H5: Component of the TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell. Defects in GTF2H5 are a cause of trichothiodystrophy photosensitive (TTDP). TTDP is an autosomal recessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER) defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype. There are no reports of skin cancer associated with TTDP. Belongs to the TFB5 family.

Protein type: DNA repair, damage; DNA-binding

Chromosomal Location of Human Ortholog: 6q25.3

Cellular Component: nucleolus; nucleoplasm

Molecular Function: rDNA binding

Biological Process: DNA repair; gene expression; mRNA capping; negative regulation of gene expression, epigenetic; nucleotide-excision repair; nucleotide-excision repair, DNA incision; nucleotide-excision repair, preincision complex assembly; positive regulation of viral transcription; regulation of gene expression, epigenetic; regulation of transcription, DNA-dependent; RNA elongation from RNA polymerase I promoter; RNA elongation from RNA polymerase II promoter; rRNA processing; termination of RNA polymerase I transcription; transcription from RNA polymerase I promoter; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase I promoter; transcription initiation from RNA polymerase II promoter; transcription-coupled nucleotide-excision repair; viral reproduction

Disease: Trichothiodystrophy 3, Photosensitive