PMS1

Also known as HNPCC3, PMSL1, hPMS1, MLH2, PMS1 homolog 1, mismatch repair system component

PMS1 protein homolog 1 is a protein that in humans is encoded by the PMS1 gene.

Gene data

PMS1

Name: PMS1 homolog 1, mismatch repair system component
Type: protein-coding
Position: 189,784,085–189,878,385 (+)
Aliases: HNPCC3, MLH2, PMSL1, hPMS1
Ensembl: ENSG00000064933
RefSeq RNA: NM_000534.5, NM_001128143.2, NM_001128144.2, NM_001289408.2, NM_001289409.2
RefSeq protein: NP_000525.1, NP_001121615.1, NP_001121616.1, NP_001276337.1, NP_001276338.1

This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008].