Preferred Label : PMS1 wt Allele;
NCIt synonyms : hPMS1; HNPCC3; PMS1 Homolog 1, Mismatch Repair System Component wt Allele; PMSL1; Mismatch Repair Gene PMSL1; Postmeiotic Segregation Increased, S. cerevisiae, 1 Gene; Postmeiotic Segregation Increased (S. cerevisiae) 1 Gene; MLH2; PMS1 Postmeiotic Segregation Increased 1 (S. cerevisiae) Gene;
NCIt definition : Human PMS1 wild-type allele is located within 2q31-q33 and is approximately 93 kb
in length. This allele, which encodes PMS1 protein homolog 1 protein, is involved
in DNA mismatch repair.;
NCIt note : PMS1 is a cloned gene for hereditary non-polyposis colon cancer and is associated
with colon, endometrial, and stomach cancers. The PMS1 gene encodes DNA Mismatch Repair
Protein PMS1, which is implicated, with MSH2 and MLH1, in mismatch repair of dinucleotide
and trinucleotide sequences. Human PMSL genes exhibit homology to bacterial mutL genes
and yeast PMS1 gene.;
GenBank Accession Number : NM_000534;
Origin ID : C51002;
UMLS CUI : C1709413;
OMIM relation
- See also inter- (CISMeF)
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_involved_in_pathogenesis_of_disease
- gene_plays_role_in_process
