XPNPEP3 Antibody – Mouse Monoclonal

The protein encoded by this gene belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position. This protein has been shown to localize to the mitochondria of renal cells, and have a role in ciliary function. Mutations in this gene are associated with nephronophthisis-like nephropathy-1. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene, however, expression of some of these isoforms in vivo is not known.[provided by RefSeq, Mar 2011]

XPNPEP3: Defects in XPNPEP3 are the cause of nephronophthisis-like nephropathy type 1 (NPHPL1). A disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. In NPHPL1 patients, extrarenal symptoms include hypertension, essential tremor, sensorineural hearing loss and gout. Severely affected individuals can manifest a mitochondrial disorder with isolated complex I deficiency activity in muscle, seizures, mental retardation and hypertrophic dilated cardiomyopathy. Belongs to the peptidase M24B family. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Protease; EC 3.4.11.9

Chromosomal Location of Human Ortholog: 22q13.2

Cellular Component: mitochondrion

Molecular Function: metallopeptidase activity; manganese ion binding; aminopeptidase activity

Biological Process: glomerular filtration; protein processing; proteolysis

Disease: Nephronophthisis-like Nephropathy 1