PMS1 wt Allele

Preferred Label : PMS1 wt Allele;

NCIt synonyms : hPMS1; HNPCC3; PMS1 Postmeiotic Segregation Increased 1 (S. cerevisiae) wt Allele; PMSL1; Mismatch Repair Gene PMSL1; Postmeiotic Segregation Increased, S. cerevisiae, 1 Gene; Postmeiotic Segregation Increased (S. cerevisiae) 1 Gene; MLH2;

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;

Details

Origin ID

C51002;

UMLS CUI

C1709413;

OMIM relation
- Pms1 homolog 1, mismatch repair system component [OMIM gene]
See also inter- (CISMeF)
- colorectal cancer, hereditary nonpolyposis, type 3 [MeSH Supplementary Concept]
- colorectal cancer, hereditary nonpolyposis, type 5 [MeSH Supplementary Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- PMS1 Gene Inactivation [NCIt concept]
gene_in_chromosomal_location
- 2q31.1 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Lynch Syndrome [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- Mismatch Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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