• Source: Polycystin 2

Polycystin-2 (PC2) is a protein that in humans is encoded by the PKD2 gene.
The gene PKD2 also known as TRPP2, encodes a member of the polycystin protein family, called TRPP, and contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. TRPP2 may function in renal tubular development, morphology, and function, and may modulate intracellular calcium homeostasis and other signal transduction pathways. This protein interacts with polycystin 1 (TRPP1) to produce cation-permeable currents. It was discovered by Stefan Somlo at Yale University.




Clinical significance


Mutations in this gene have been associated with autosomal dominant polycystic kidney disease.




Interactions


Polycystin 2 has been shown to interact with the proteins TRPC1, PKD1 and TNNI3.




See also


HAX1
TRPP




References






Further reading






External links


GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Dominant
"Transient Receptor Potential Channels: TRPP1". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology.

Kata Kunci Pencarian:

• Polycystin 2
• Polycystin
• Polycystin cation channel family
• Polycystin 1
• Polycystic kidney disease
• Barbara E. Ehrlich
• Fibrocystin
• Induced pluripotent stem cell
• Triptolide
• Autosomal dominant polycystic kidney disease