" /> MLH3 wt Allele - CISMeF





Preferred Label : MLH3 wt Allele;

NCIt synonyms : MutL (E. Coli) Homolog 3 Gene; hMLH3 Gene; S240II117 Gene; HNPCC7; MutL Homolog 3 wt Allele; MutL, E. coli, Homolog of, 3 Gene; MutL Homolog 3 (E. coli) Gene;

NCIt definition : Human MLH3 wild-type allele is located in the vicinity of 14q24.3 and is approximately 35 kb in length. This allele, which encodes DNA mismatch repair protein Mlh3, plays a role in DNA mismatch repair and genomic integrity maintenance.;

NCIt note : The MLH3 gene is ubiquitously expressed in various tissues and two isoforms are produced by alternative splicing. MLH3 interacts with MLH1 and shares the same interacting region on MLH1 with PMS1 and PMS2. The balance of these three competing MLH1 partners may be important in the repair of mismatches in DNA. Malfunction of the mismatch repair system results in a mutator phenotype, which is manifested as microsatellite instability (MSI). MSI is often divided into 2 forms: MSI-high (MSI-H) and MSI-low (MSI-L), based quantitatively on the observed frequency of genomic mutations. An appreciable frequency of somatic MLH3 mutations in MSI-H tumors is consistent with a possible role for this gene in the progression of colorectal cancer tumorigenesis. Germline mutations of this gene may also play a role in hereditary nonpolyposis colorectal cancer.;

GenBank Accession Number : AB039667;

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12/05/2024


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