PMS1 homolog 2, mismatch repair system component pseudogene 12 (PMS2P12)

PMS2P12 is classified as a pseudogene related to the PMS2 gene, a key DNA mismatch repair gene. Pseudogenes are genomic DNA sequences similar to normal genes but are generally non-functional and do not encode functional proteins. Multiple PMS2-related pseudogenes exist on chromosome 7, and PMS2P12 is among them. These pseudogenes can complicate the accurate interpretation of genetic analyses due to high sequence similarity with the functional PMS2 gene[2]. Unlike the functional PMS2 gene, which plays critical roles in DNA repair and cancer predisposition, PMS2P12 does not appear to encode a functional protein and has no verified roles in DNA repair or disease. Therefore, PMS2P12 is not considered a receptor, enzyme, or traditional therapeutic/druggable target. Presence of such pseudogenes is notable primarily as a source of potential technical artifacts or misinterpretation in genetic testing[2].

Other names

PMS2P12PMSL12PMS2L12postmeiotic segregation increased 2 pseudogene 12postmeiotic segregation increased 2-like 12 pseudogenepostmeiotic segregation increased 2-like protein 12