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Official Symbol:	PKD1
NCBI Gene ID:	5310
Aliases:	PBP PC1 Pc-1 TRPP1
Official Full Name:	polycystin 1, transient receptor potential channel interacting
Species:	human
Summary:	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. [provided by RefSeq, Oct 2008].

 

Buy raPOOLs for PKD1

There is no existing raPOOL for your gene, hence a custom raPOOL set up service is required. Please add this to cart and proceed to choose the raPOOL scale required where 2, 5 or 10 nmol is sufficient for 20, 50 or 100 reactions with the recommended use of 100 pmol raPOOL per reaction.