|Polycystic kidney disease 1 (autosomal dominant)|
PDB rendering based on 1b4r.
|External IDs||Template:OMIM5 Template:MGI|
|RNA expression pattern|
|File:PBB GE PKD1 202328 s at tn.png|
|File:PBB GE PKD1 202327 s at tn.png|
|File:PBB GE PKD1 216949 s at tn.png|
|Template:GNF Ortholog box|
Polycystic kidney disease 1 (autosomal dominant), also known as PKD1, is a human gene.
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.
- Wilson PD (2001). "Polycystin: new aspects of structure, function, and regulation". J. Am. Soc. Nephrol. 12 (4): 834–45. PMID 11274246.
- Boletta A, Germino GG (2004). "Role of polycystins in renal tubulogenesis". Trends Cell Biol. 13 (9): 484–92. PMID 12946628.
- Everson GT, Taylor MR, Doctor RB (2004). "Polycystic disease of the liver". Hepatology. 40 (4): 774–82. doi:10.1002/hep.20431. PMID 15382167.
- Weimbs T (2007). "Regulation of mTOR by polycystin-1: is polycystic kidney disease a case of futile repair?". Cell Cycle. 5 (21): 2425–9. PMID 17102641.
|30px||This membrane protein–related article is a stub. You can help Wikipedia by expanding it.|