Polycystin 1, transient receptor potential channel interacting pseudogene 2 (PKD1P2)

PKD1P2 is a human pseudogene that resembles the functional PKD1 gene, which encodes polycystin 1—a protein involved in the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD)[1][4][8][10]. PKD1P2 does not encode a functional protein; instead, it is one of several pseudogenes that arose from gene duplication events and retains substantial sequence similarity to PKD1. Although PKD1P2 itself has no known biological activity or disease association, its presence can complicate genetic diagnosis of ADPKD because standard sequencing approaches may inadvertently amplify or detect variants from PKD1P2 rather than PKD1, potentially leading to misdiagnosis[10]. Thus, PKD1P2 is relevant primarily in the context of genetic testing, but not as a receptor, enzyme, or other therapeutic target[3][9][10][11].

Other names

HG2polycystic kidney disease 1 (autosomal dominant) pseudogene 2PKD1P2