2) ARPKD = fibrocystin /polyductin (FPC) -- similar to polycystins
FPC protein is found on the primary cilia of epithelia cells of cortical and medullary collecting ducts and cholangiocytes of bile ducts
FPC interacts with ADPKD protein PC2 and may also participate in this regulation pathway of the mechanosensory function of the primary cilia, calcium signaling, and PCP.
yotsubatoHere we thank FA for failing us yet again. Giving us PKD1, but not polycystin. I got the question right but I just guessed it because nothing else made sense. +16
usmleuser007Autosomal dominant polycystic kidney disease
1) occurs in patients with mutations in the gene (PKD1) encoding polycystin-1 (PC1).
2) PC1 is a complex polytopic membrane protein expressed in cilia that undergoes autoproteolytic cleavage at a G protein–coupled receptor proteolytic site (GPS).
3) A quarter of PKD1 mutations are missense variants, though it is not clear how these mutations promote disease.
4) GPS cleavage is required for PC1 trafficking to cilia.
5) A common feature among a subset of pathogenic missense mutations is a resulting failure of PC1 to traffic to cilia regardless of GPS cleavage.
6) Missense mutation in the gene encoding polycystin-2 (PC2) that prevented this protein from properly trafficking to cilia. +3
waterlooyotsubo - the book is already so thicc. I think you made a great point tho, nothing else made sense. Sometimes you can't know everything on the test, but you can still play the game. +2
submitted by ∗usmleuser007(464)
1) ADPKD = polycystins (PC2)
2) ARPKD = fibrocystin /polyductin (FPC) -- similar to polycystins
FPC protein is found on the primary cilia of epithelia cells of cortical and medullary collecting ducts and cholangiocytes of bile ducts
FPC interacts with ADPKD protein PC2 and may also participate in this regulation pathway of the mechanosensory function of the primary cilia, calcium signaling, and PCP.