2025年3月30日 · PMS1 (PMS1 Homolog 1, Mismatch Repair System Component) is a Protein Coding gene. Diseases associated with PMS1 include Colorectal Cancer and Lynch Syndrome. Among its related pathways is Base excision repair. Gene Ontology (GO) annotations related to this gene include ATP hydrolysis activity and mismatched DNA binding.

PMS1 protein homolog 1 is a protein that in humans is encoded by the PMS1 gene. [5][6] The protein encoded by this gene was identified by its homology to a yeast protein involved in DNA mismatch repair. A role for this protein in mismatch repair has not been proven.

2025年2月9日 · Title: Dominant mutations in S. cerevisiae PMS1 identify the Mlh1-Pms1 endonuclease active site and an exonuclease 1-independent mismatch repair pathway. PMS1 is most likely deregulated by post-transcriptional modification in oral squamous cell carcinoma.

2024年4月12日 · We show the splice modulators also target PMS1, a known modifier of HD age-at-onset, suggesting that their suppression of CAG expansion is due to pseudoexon inclusion in PMS1.

Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population. These studies establish that the Mlh1-Pms1 endonuclease is required for MMR in a previously uncharacterized Exo1-independent MMR pathway.

PMS1 同源物 1，错配修复系统成分： 该基因编码属于 DNA 错配修复 mutL/hexB 家族的蛋白质。 这种蛋白质被认为参与了 DNA 错配的修复，它可以与 MLH1 (一种已知的 DNA 错配修复蛋白) 形成异二聚体。

2020年12月10日 · Genetic analysis revealed that mlh2 dominant mutations interfere with both Exonuclease 1 (Exo1)-dependent and Exo1-independent MMR. Lastly, we demonstrate that a homolog mutation in human hPMS1...

Identification of a second MutL DNA mismatch repair complex (hPMS1 and hMLH1) in human epithelial cells. Initial characterization of the human central proteome. 这个基因编码一个属于DNA错配修复mutL/hexB家族的蛋白质。 这个蛋白质被认为参与DNA错配的修复，并且可以与已知的DNA错配修复蛋白MLH1形成异源二聚体。 这个基因的突变导致3型遗传性非息肉性结直肠癌（HNPCC3），单独或其他参与HNPCC表型的基因突变，也被称为林奇综合症。 [ …

2024年1月7日 · Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. Genome-Wide Association Study Identifies Variants in PMS1 Associated with Serum Ferritin in a Chinese Population. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

2011年11月8日 · The 2 had greatest homology to the yeast PMS1 gene and therefore the human genes were designated PMS1 and PMS2 (600259). Sequence analysis of human PMS1 cDNA identified an open reading frame (ORF) of 2,795 bp thought to encode a 932-residue protein with 27% identity to yeast PMS1.