MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli))

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Keyword

Gene: MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)) Homo sapiens

Symbol:

MLH1

Name:

mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)

Description:

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. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

COCA2; DNA mismatch repair protein Mlh1; FCC2; hMLH1; HNPCC; HNPCC2; MGC5172; mismatch repair protein; mutL protein homolog 1; OTTHUMP00000161361; OTTHUMP00000208782; OTTHUMP00000210160; OTTHUMP00000210161; OTTHUMP00000210162

Orthologs:

Mus musculus : Mlh1 (mutL homolog 1 (E. coli)) MGI
Rattus norvegicus : Mlh1 (mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli))

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	3	36,966,854 - 37,024,352	+	NCBI
Human Genome Assembly HuRef	3	36,975,521 - 37,033,106	+	NCBI
Human Genome Assembly GRCh37	3	37,034,841 - 37,092,337	+	NCBI
Human Genome Assembly Build 36	3	37,009,983 - 37,067,341	+	NCBI
Human Cytogenetic Map	3	p21.3		NCBI
Human Genome Assembly	3	37,009,982 - 37,067,341		NCBI