PMS1 PMS1 homolog 1, mismatch repair system component
Gene ID: 5378, updated on 27-Aug-2024Gene type: protein coding
Also known as: MLH2; PMSL1; hPMS1; HNPCC3
- See all available tests in GTR for this gene
- Go to complete Gene record for PMS1
- Go to Variation Viewer for PMS1 variants
Summary
This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| Genome-Wide Association Study Identifies Variants in PMS1 Associated with Serum Ferritin in a Chinese Population. GeneReviews: Not available | |
| Lynch syndrome 1 | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 2q32.2
- Sequence:
- Chromosome: 2; NC_000002.12 (189784450..189877629)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PMS1 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
- PMS1 @ ZAC-GGM
- PMS1 homepage - Colon cancer gene variant databases
- 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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