基因名:
XPNPEP3
产品别名:
APP3; ICP55; NPHPL1; XPNPEP3; X-prolyl aminopeptidase 3; X-prolyl aminopeptidase 3; xaa-Pro aminopeptidase 3; Intermediate Cleaving Peptidase 55; X-Pro aminopeptidase 3; X-prolyl aminopeptidase 3, mitochondrial; probable Xaa-Pro aminopeptidase 3; X-脯氨酰氨肽酶3(XPNPEP3);
背景信息:
Probable Xaa-Pro Aminopeptidase 3 (XPNPEP3) is a member of the peptidase M24B family. XPNPEP3 has two isoforms and both are widely expressed. XPNPEP3 is localized in the Mitochondrion. XPNPEP3 catalyzes the release of any N-terminal amino acid, including proline, that is linked to proline, even from a dipeptide or tripeptide. Defects in XPNPEP3 are the cause of nephronophthisis-like nephropathy type 1 which is a disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure.