PMS1 homolog 2, mismatch repair system component pseudogene 4 (PMS2P4)

PMS1 homolog 2, mismatch repair system component pseudogene 4 (PMS2P4) is a non-coding pseudogene related to the protein-coding PMS2 gene, which is a crucial component of the DNA mismatch repair (MMR) pathway. PMS2P4 shares sequence similarity with PMS2 and resides on human chromosome 7 along with several other PMS2-related pseudogenes[2][4]. Unlike the functional PMS2 gene, PMS2P4 does not encode a protein and does not directly participate in DNA repair or other canonical cell functions. PMS2P4 and other PMS2 pseudogenes can complicate genetic analyses because their high sequence similarity to PMS2 may result in misattribution of genetic variants, potentially leading to inaccurate clinical results in screening for Lynch syndrome and related hereditary cancer syndromes[2][1]. While they do not function as protein-coding therapeutic targets, PMS2 pseudogenes can affect clinical genetics workflows, making recognition and distinction from the active gene essential in molecular diagnostics. Note: There is no evidence that PMS2P4 is a receptor, enzyme, transporter, or any other protein-coding therapeutic target. It is best classified as a pseudogene, and not a direct target for therapy or pharmacological modulation[2][4]. Its relevance is limited to genetic diagnostics and potential regulatory effects at the nucleic acid level[3].

Other names

PMS2P4PMS6PMS2 pseudogenePMS2L4