PMS2 C-terminal like pseudogene (PMS2CL)

PMS2 C-terminal like (PMS2CL, also called PMS2P13 and related names) is a pseudogene similar in sequence to the mismatch repair gene PMS2. PMS2CL does not produce a functional protein. Pseudogenes like PMS2CL can complicate genetic analysis of PMS2 due to high sequence similarity, which may cause artifacts in genetic testing. The functional PMS2 gene encodes a DNA repair enzyme essential in correcting replication errors, and mutations in PMS2 can cause Lynch syndrome, a hereditary cancer predisposition. However, PMS2CL itself does not play a functional role in DNA mismatch repair or in disease pathogenesis. The PMS2 gene is an active component of DNA mismatch repair, crucial for genomic stability. However, PMS2CL (and similar pseudogenes on chromosome 7) lack coding potential, serving as nonfunctional DNA elements. Their main biological relevance is the potential to confound genetic diagnostics due to sequence homology with PMS2. No drugs, biomarkers, or therapeutic roles are associated with PMS2CL.

Other names

PMS2CLPMS2P13PMS2-C terminal-like proteinPMS1 homolog 2mismatch repair system component pseudogene 13postmeiotic segregation increased 2 pseudogene 13