- PKD1
Polycystic kidney disease 1 (autosomal dominant), also known as PKD1, is a human
gene .PBB_Summary
section_title =
summary_text = 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 may function as an integral membrane protein involved in cell-cell/matrix interactions, and may modulate intracellular calcium homoeostasis and other signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene have been associated with autosomal dominant polycystic kidney disease. 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. [cite web | title = Entrez Gene: PKD1 polycystic kidney disease 1 (autosomal dominant)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5310| accessdate = ]ee also
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TRPP References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Wilson PD |title=Polycystin: new aspects of structure, function, and regulation. |journal=J. Am. Soc. Nephrol. |volume=12 |issue= 4 |pages= 834–45 |year= 2001 |pmid= 11274246 |doi=
*cite journal | author=Boletta A, Germino GG |title=Role of polycystins in renal tubulogenesis. |journal=Trends Cell Biol. |volume=13 |issue= 9 |pages= 484–92 |year= 2004 |pmid= 12946628 |doi=
*cite journal | author=Everson GT, Taylor MR, Doctor RB |title=Polycystic disease of the liver. |journal=Hepatology |volume=40 |issue= 4 |pages= 774–82 |year= 2004 |pmid= 15382167 |doi= 10.1002/hep.20431
*cite journal | author=Weimbs T |title=Regulation of mTOR by polycystin-1: is polycystic kidney disease a case of futile repair? |journal=Cell Cycle |volume=5 |issue= 21 |pages= 2425–9 |year= 2007 |pmid= 17102641 |doi=PBB_Controls
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