{"symbol":"PKD1","synonyms":["TRPP1"],"name":"polycystic kidney disease 1 (autosomal dominant)","description":"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]","ncbiEntrezGeneId":5310,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5310","proteins":[{"symbol":"PKD1_HUMAN","href":"/api/1.0/protein/PKD1_HUMAN"}],"hgncRootFamilies":[{"name":"Ion channels","href":"/api/1.0/gene_family/Ion+channels"}]}