TGM5 transglutaminase 5
Gene ID: 9333, updated on 7-Apr-2024Gene type: protein coding
Also known as: TGX; PSS2; TGM6; TGMX; TG(X); TGASE5; TGASEX
- See all available tests in GTR for this gene
- Go to complete Gene record for TGM5
- Go to Variation Viewer for TGM5 variants
Summary
This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Acral peeling skin syndrome | See labs |
| Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. GeneReviews: Not available |
Genomic context
- Location:
- 15q15.2
- Sequence:
- Chromosome: 15; NC_000015.10 (43232590..43266928, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TGM5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- TGM5 database
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.