Polycystin-1-like protein 2 (PKD1L2)

Polycystin-1-like protein 2 (PKD1L2) is a membrane protein encoded by the PKD1L2 gene, a member of the polycystin protein family and a homolog of polycystin-1 (PKD1), which is implicated in autosomal dominant polycystic kidney disease through mutations in PKD1 and PKD2[1][9]. While the precise biological function of PKD1L2 is not fully understood, the protein contains 11 transmembrane domains, a G protein-coupled receptor (GPCR) proteolytic site, and a PLAT domain, suggesting a possible function as a GPCR or as a regulator/component of cation channel pores[1][7]. PKD1L2 has several alternative splice variants and is expressed in tissues such as the kidney and heart. Functional studies indicate that PKD1L2 can bind to G-protein subunits, and may participate in signal transduction[1]. Unlike the canonical polycystin-1 protein, there is currently no direct evidence that PKD1L2 mutations cause disease or that it serves as a therapeutic drug target[7][9]. PKD1L2's relationship to human disease remains largely undefined, though it is associated as a gene with some rare disorders (e.g., otosclerosis 4, Long QT syndrome), but its mechanism is uncharacterized[7]. No drugs, definitive roles in disease, mechanisms of drug action, or clinical biomarkers are currently described for PKD1L2.

Other names

Polycystin-1L2PKD1L2KIAA1879PC1L2PC1-like 2 proteinpolycystic kidney disease protein 1-like 2polycystin-1-like protein 2