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pkd1

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Official Full Name
polycystic kidney disease 1 (autosomal dominant)
Background
This 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.
Synonyms
PKD1; polycystic kidney disease 1 (autosomal dominant); polycystin-1; PBP; Pc 1; polycystin 1; transient receptor potential cation channel; subfamily P; member 1; TRPP1; Autosomal dominant polycystic kidney disease 1 protein; Autosomal dominant polycystic kidney disease protein 1; OTTHUMP00000208669; OTTHUMP00000208670; Pc-1; PKD; PKD1_HUMAN; Polycystic Kidney Disease 1; polycystic kidney disease-associated protein; Polycystin 1 Precursor; transient receptor potential cation channel, subfamily P, member 1