PKDREJ

Chr 22

polycystin family receptor for egg jelly

NCBI Gene: 10343 ENSG00000130943 UniProt: Q9NTG1 OMIM: 604670

The protein is a testis-specific polycystin family member with 11 transmembrane domains that controls sperm transport and timing of acrosome exocytosis during fertilization. Mutations cause male infertility with autosomal recessive inheritance. The gene shows very low constraint against loss-of-function variants, consistent with its reproductive rather than essential developmental role.

OMIM ResearchSummary from RefSeq, UniProt

This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.17

LOEUF

Multiple*

Mechanism· predicted