PKD1 gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described.
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Protein Aliases: Autosomal dominant polycystic kidney disease 1 protein; Autosomal dominant polycystic kidney disease 1 protein homolog; PC1; polycystic kidney disease 1 (autosomal dominant); polycystic kidney disease 1 homolog; polycystin-1; polycystic kidney disease-associated protein; polycystin 1; Polycystin-1; transient receptor potential cation channel, subfamily P, member 1
Gene Aliases: mFLJ00285; PBP; Pc-1; PC1; PKD1; TRPP1