Preferred Label : MLH1 wt Allele;
NCIt synonyms : hMLH1; FCC2; COCA2; MutL (E. Coli) Homolog 1 (Colon Cancer, Nonpolyposis Type 2) Gene; HNPCC2; MGC5172; MutL Homolog 1, Colon Cancer, Nonpolyposis Type 2 (E. coli) Gene; MutL, E. coli, Homolog of, 1 Gene; MutL Homolog 1 wt Allele;
NCIt definition : Human MLH1 wild-type allele is located in the vicinity of 3p21.3 and is approximately
57 kb in length. This allele, which encodes DNA mismatch repair protein Mlh1, plays
a role in DNA mismatch repair. Aberrant alleles are associated with colon, endometrial
and stomach cancers. Further, the defects in MLH1 are a cause of hereditary non-polyposis
colorectal cancer.;
NCIt note : The MLH1 gene (MUTL/HEXB family) consists of nineteen coding exons with exons 1 to
7 contain a highly conserved region. Widely expressed, several alternative splice
variants occur in diverse tissue types. Some variants lack exons 6/9, 9, 9/10, 9/10/11,
10/11, 12, 16, or 17. The encoded protein, MutL Homolog 1 (MLH1), is part of the multi-subunit
BASC complex, which may sense abnormal DNA structures and regulate post-replication
repair. MLH1 and MLH3 also heterodimerize.;
GenBank Accession Number : U07343;
Origin ID : C50991;
UMLS CUI : C1704807;
OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_has_abnormality
- gene_in_chromosomal_location
- gene_involved_in_pathogenesis_of_disease
- gene_is_element_in_pathway
- gene_plays_role_in_process
