Polycystin 1, transient receptor potential channel interacting pseudogene 5 (PKD1P5)

PKD1P5, or polycystin 1, transient receptor potential channel interacting pseudogene 5, is a human pseudogene located in a region of chromosome 16 that contains multiple PKD1-related pseudogenes. Unlike the protein-coding PKD1 gene—which encodes polycystin-1, involved in renal tubular structure and function—PKD1P5 does not produce a functional protein. It is thought to be a product of gene duplication and shares high sequence similarity with PKD1. Its presence complicates molecular genetic diagnostics of polycystic kidney disease, as the high homology with PKD1 can interfere with genetic sequencing and cause challenges in distinguishing PKD1 pathogenic mutations from pseudogene-derived sequences. There is no evidence PKD1P5 itself is implicated in disease, encodes a receptor, or acts as a therapeutic target.

Other names

HG5polycystic kidney disease 1 (autosomal dominant) pseudogene 5PKD1P5PKD1 pseudogene 5