PMS1 homolog 2, mismatch repair system component pseudogene 2 (PMS2P2)

PMS2P2 is a human pseudogene located on chromosome 7 that shares high sequence similarity to PMS2, the canonical gene encoding a protein involved in DNA mismatch repair[3]. Pseudogenes like PMS2P2 do not produce functional proteins and are considered noncoding relics resulting from gene duplication or rearrangement. While PMS2 itself is crucial for DNA repair, mutations, or complexities in these related pseudogene regions (including PMS2P2) can lead to complications in clinical genetic testing and interpretation for cancer predisposition syndromes such as Lynch syndrome[3]. PMS2P2 does not have a known biological function, direct disease associations, or drug interactions. Its primary clinical relevance is its potential to confound PMS2 genetic analyses.

Other names

Putative postmeiotic segregation increased 2-like protein 2PMS2P2PMS2L14PMS2L2PMS4Postmeiotic segregation increased 2-like protein 14Postmeiotic segregation increased protein 4Putative postmeiotic segregation increased 2 pseudogene 2