GTF2H5 general transcription factor IIH subunit 5
Gene ID: 404672, updated on 7-Apr-2024Gene type: protein coding
Also known as: TTD; TFB5; TTD3; TTDA; TFIIH; TTD-A; TGF2H5; C6orf175; bA120J8.2
- See all available tests in GTR for this gene
- Go to complete Gene record for GTF2H5
- Go to Variation Viewer for GTF2H5 variants
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. [provided by RefSeq, Mar 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of smoking behaviours among Bangladeshi adults. GeneReviews: Not available | |
| Trichothiodystrophy 3, photosensitive | See labs |
Genomic context
- Location:
- 6q25.3
- Sequence:
- Chromosome: 6; NC_000006.12 (158168350..158199344)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GTF2H5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GTF2H5 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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