MLH1

MLH1

Identifiers Symbols MLH1; COCA2; FCC2; HNPCC; HNPCC2; hMLH1 External IDs OMIM: 120436 MGI: 101938 HomoloGene: 208 GeneCards: MLH1 Gene

Gene Ontology
Molecular function	• single-stranded DNA binding • protein binding • ATP binding • ATPase activity • guanine/thymine mispair binding • MutSalpha complex binding
Cellular component	• synaptonemal complex • male germ cell nucleus • nucleus • chiasma • mismatch repair complex • MutLalpha complex • MutLbeta complex
Biological process	• pachytene • nuclear-transcribed mRNA poly(A) tail shortening • resolution of meiotic recombination intermediates • response to hypoxia • ATP catabolic process • mismatch repair • double-strand break repair via nonhomologous end joining • male meiosis chromosome segregation • reciprocal meiotic recombination • spermatogenesis • intrinsic apoptotic signaling pathway in response to DNA damage • response to toxin • somatic hypermutation of immunoglobulin genes • response to drug • meiotic metaphase I plate congression • isotype switching • negative regulation of mitotic recombination • oogenesis • spindle midzone assembly involved in meiosis • cellular response to organic cyclic compound
Sources: Amigo / QuickGO

RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 4292 17350 Ensembl ENSG00000076242 ENSMUSG00000032498 UniProt P40692 Q9JK91 RefSeq (mRNA) NM_000249.3 NM_026810.2 RefSeq (protein) NP_000240.1 NP_081086.2 Location (UCSC) Chr 3:
37.03 – 37.11 Mb Chr 9:
111.23 – 111.27 Mb PubMed search

MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli), also known as MLH1, is a human gene located on Chromosome 3. It is a gene commonly associated with hereditary nonpolyposis colorectal cancer.

This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Alternatively spliced transcript variants encoding different isoforms have been described, but their full-length natures have not been determined.

It can also be associated with Turcot syndrome.