Global InformationXPNPEP3 information
Xaa-Pro aminopeptidase 3, also known as aminopeptidase P3, is an enzyme that in humans is encoded by the XPNPEP3 gene.[1][2] XPNPEP3 localizes to mitochondria in renal cells and to kidney tubules in a cell type-specific pattern. Mutations in XPNPEP3 gene have been identified as a cause of a nephronophthisis-like disease.[2]
- ^ "Entrez Gene: X-prolyl aminopeptidase (aminopeptidase P) 3".
- ^ a b O'Toole JF, Liu Y, Davis EE, et al. (March 2010). "Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy". J. Clin. Invest. 120 (3): 791–802. doi:10.1172/JCI40076. PMC 2827951. PMID 20179356.