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Defective Mismatch Repair Associated With PMS2

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-5632987

PubChem

R-HSA-5632987

Description

PMS2 heterodimerizes with MLH1 to form the MutL alpha complex involved in DNA mismatch repair. Mutations in this PMS2 are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Heterozygous truncating mutations in PMS2 play a role in a small subset of hereditary nonpolyposis colorectal carcinoma (Lynch syndrome, HNPCC-like) families. PMS2 mutations lead to microsatellite instability with carriers showing a microsatellite instability high phenotype and loss of PMS2 protein expression in all tumors.

Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.

SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying 1 entry
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
P40692	DNA mismatch repair protein Mlh1	COCA2 MLH1	view

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