MSH6 wt Allele

Preferred Label : MSH6 wt Allele;

NCIt synonyms : MutS Homolog 6 (E. coli) Gene; HNPCC5; GTBP; MutS Homolog 6 wt Allele; MutS (E. Coli) Homolog 6 Gene; MutS, E. coli, Homolog of, 6 Gene; HSAP; p160;

NCIt definition : Human MSH6 wild-type allele is located within 2p16 and is approximately 24 kb in length. This allele, which encodes DNA mismatch repair protein MSH6, plays a role in DNA mismatch repair. Aberrant alleles are associated with colon, endometrial and stomach cancers.;

NCIt note : The MSH6 gene encodes the G/T Binding Protein (GTBP), which forms Mismatch-Binding Factor with MSH2. MSH6 is part of the multisubunit BASC complex, which may sense abnormal DNA structures and regulate postreplication repair. The MSH6 Gene (MUTS family) at 2p16 is a cloned gene for Hereditary Non-Polyposis Colon Cancer.;

GenBank Accession Number : NM_000179;

Details

Origin ID

C50998;

UMLS CUI

C1706576;

OMIM relation
- Muts homolog 6 [OMIM gene]
See also inter- (CISMeF)
- Lynch syndrome 5 [OMIM Phenotype]
- 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
- Inactivating MSH6 Gene Mutation [NCIt concept]
gene_in_chromosomal_location
- 2p16 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Lynch Syndrome [NCIt concept]
gene_is_element_in_pathway
- Colorectal Cancer Pathway [NCIt concept]
- Mismatch Repair Pathway [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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