CatSper2 pseudogene 1 (CATSPER2P1)

CatSper2 pseudogene 1 (CATSPER2P1) is a duplicated, non-functional copy of the CATSPER2 gene. While the functional CATSPER2 gene encodes an essential subunit of the sperm-specific CatSper calcium channel required for sperm motility and male fertility[1][3][5][7], the CATSPER2P1 locus contains disabling mutations (such as stop codons, frameshifts, or deletions) that prevent it from producing a functional protein[5]. These pseudogenes may arise from gene duplication or retrotransposition events but generally do not participate in cellular functions or act as therapeutic targets. CATSPER2P1 is located within a segmental duplication on chromosome 15, where the distal (pseudogene) and proximal (functional) copies can sometimes be involved in genomic disorders if deleted together, but the pseudogene itself does not play an independent biological role[5].

Other names

CATSPER2BCATSPER2P1cation channel sperm associated 2 pseudogene 1