Gene: GTF2H5

Alternate names for this Gene: C6orf175|TFB5|TFIIH|TGF2H5|TTD|TTD-A|TTD3|TTDA|bA120J8.2

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q25.3

Description of this Gene: general transcription factor IIH subunit 5

Type of Gene: protein-coding

rs121434365 in GTF2H5 gene and TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE PMID 15220921 2004 A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.

rs9365994 in GTF2H5 gene and Thyroglobulin antibody measurement PMID 29678681 2019 Genome-wide meta-analysis identifies novel gender specific loci associated with thyroid antibodies level in Croatians.