MLH1 Recombinant Rabbit Monoclonal Antibody [SP08-04] (ET1604-41)

UNIPROT #

P40692

PROTEIN NAME

MLH1

SYNONYMS

COCA 2 antibody;COCA2 antibody;DNA mismatch repair protein Mlh1 antibody;FCC 2 antibody;FCC2 antibody;hMLH 1 antibody;hMLH1 antibody;HNPCC 2 antibody;HNPCC antibody;HNPCC2 antibody;MGC5172 antibody;MLH 1 antibody;MLH1 antibody;MLH1_HUMAN antibody;MutL homolog 1 (E. coli) antibody;MutL homolog 1 antibody;MutL homolog 1 colon cancer nonpolyposis type 2 antibody;MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) antibody;MutL protein homolog 1 antibody;MutL, E. coli, homolog of, 1 antibody

SEQUENCE SIMILARITIES

Belongs to the DNA mismatch repair MutL/HexB family.

TISSUE SPECIFICITY

Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart.

SUBCELLULAR LOCATION

Nucleus.

FUNCTION

DNA-mismatch repair (MMR) is an essential process in maintaining genetic stability. Lack of a functional DNA-mismatch repair pathway is a common characteristic of several different types of human cancers, either due to an MMR gene mutation or promoter methylation gene silencing. MLH1 is an integral part of the protein complex responsible for mismatch repair and is expressed in lymphocytes, heart, colon, breast, lung, spleen, testis, prostate, thyroid and gall bladder tissues, and is methylated in several ovarian tumors. Loss of MLH1 protein expression is associated with a mutated phenotype, microsatellite instability and a predisposition to cancer. In hereditary nonpolyposis colorectal cancer (HNPCC), an autosomal dominant inherited cancer syndrome that signifies a high risk of colorectal and various other types of cancer, the MLH1 gene exhibits a pathogenic mutation. Certain cancer cell lines, including leukemia CCRF-CEM, colon HCT 116 and KM12, and ovarian cancers SK-OV-3 and IGROV-1, show complete deficiency of MLH1, while MLH1 is expressed in 60% of melanomas, 70% of noninvasive squamous cell carcinomas and 30% of invasive squamous cell carcinomas.