Polycystic kidney disease protein family is a group of integral membrane proteins that belong to voltage-gated ion channel superfamily activated by changes in the electrical membrane potential near the channel. There are several transporters ranging from 500 to over 4000 amino acid residues in length and containing 5~18 transmembrane domains in the polycystic kidney disease protein family. Polycystins have been shown to act as cation channels such as Na+, K+ and Ca2+ transporting positive ions across the membrane. Studies have revealed that polycystins are associated with the regulation of organ morphogenesis and function, such as the early development of the metanephric kidney. Mutations in polycystins may be linked to the development of polycystic kidney disease. Hence polycystin channels are proving to be the important new targets for therapy of polycystic kidney disease.
Here shows part of polycystic kidney disease protein family in humans including PKD1, PKD2, PKD1L1, PKD1L3, and PKD2L1. These proteins share sequence and structural homology and are involved in the progression of autosomal dominant polycystic kidney disease. Among polycystins, the functions and structures of PKD1 and PKD2 are relatively clear. PKD1 interacting with PKD2 in renal tubules promotes the normal development and function of the kidneys. Mutations in PKD2 (5~10%) are associated with a slower clinical deterioration of kidney function.
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