PMS1 homolog 2, mismatch repair system component pseudogene 8 (PMS2P8)

PMS1 homolog 2, mismatch repair system component pseudogene 8 (PMS2P8) is a noncoding pseudogene present in the human genome. Pseudogenes like PMS2P8 do not encode functional proteins but are related in sequence to the genuine PMS2 gene, which plays a critical role in DNA mismatch repair. Although pseudogenes typically lack direct biological activity, they may contribute to indirect regulatory effects such as gene conversion, sequence exchange, or modulation of gene expression through interactions with microRNAs[6][2][7]. The presence of multiple PMS2-related pseudogenes, including PMS2P8, can complicate genetic analyses of mismatch repair deficiency syndromes because these sequences may be mistakenly detected as PMS2 mutations in some assays[2][6]. PMS2P8 does not function as a receptor, enzyme, or other classical drug target.

Other names

PMS2P8PMS2 pseudogene 8