GTF2H5 Chromosome 6
General transcription factor IIH subunit 5
Upload your DNA to see your personal genotypes for variants in GTF2H5.
What This Gene Does
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]
Gene Info
Gene Group
"Nucleotide excision repair|General transcription factor IIH complex subunits"
Locus Type
gene with protein product
Location
6q25.3
Ensembl
ENSG00000272047
Associated Conditions (2)
Trichothiodystrophy 3
photosensitive
Key Variants
RS765378190
Likely pathogenic
Trichothiodystrophy 3, photosensitive, Trichothiodystrophy 3
Health Risk
RS767541018
Likely pathogenic
Health Risk
RS121434365
Pathogenic
Trichothiodystrophy 3, photosensitive, Trichothiodystrophy 3
Health Risk
RS1777036380
Pathogenic
Trichothiodystrophy 3, photosensitive, Trichothiodystrophy 3
Health Risk
RS1777038679
Pathogenic
Trichothiodystrophy 3, photosensitive, Trichothiodystrophy 3
Health Risk
RS1785841426
Pathogenic
Trichothiodystrophy 3, photosensitive, Trichothiodystrophy 3
Health Risk
RS2128432163
Pathogenic
Health Risk
RS121434364
Pathogenic/Likely pathogenic
Trichothiodystrophy 3, photosensitive, Trichothiodystrophy 3
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765378190 | Health Risk | Likely pathogenic | Trichothiodystrophy 3, photosensitive, Trichothiodystrophy 3 |
| RS767541018 | Health Risk | Likely pathogenic | — |
| RS121434365 | Health Risk | Pathogenic | Trichothiodystrophy 3, photosensitive, Trichothiodystrophy 3 |
| RS1777036380 | Health Risk | Pathogenic | Trichothiodystrophy 3, photosensitive, Trichothiodystrophy 3 |
| RS1777038679 | Health Risk | Pathogenic | Trichothiodystrophy 3, photosensitive, Trichothiodystrophy 3 |
| RS1785841426 | Health Risk | Pathogenic | Trichothiodystrophy 3, photosensitive, Trichothiodystrophy 3 |
| RS2128432163 | Health Risk | Pathogenic | — |
| RS121434364 | Health Risk | Pathogenic/Likely pathogenic | Trichothiodystrophy 3, photosensitive, Trichothiodystrophy 3 |