The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
< 1.000 Eu/µg
>95% by SDS-PAGE . ab173067 is greater than 95% pure, as determined by SEC-HPLC and reducing SDS-PAGE.
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Preparation and Storage
Stability and Storage
Shipped on Dry Ice. Store at -20°C or -80°C. Avoid freeze / thaw cycle.
pH: 7.30 Constituents: 0.02% DTT, 0.3% Tris
It is supplied as an 0.2 µM filtered solution.
Probable Xaa Pro aminopeptidase 3
Probable Xaa-Pro aminopeptidase 3
X Pro aminopeptidase 3
X prolyl aminopeptidase (aminopeptidase P) 3
X-Pro aminopeptidase 3
Isoform 1 and isoform 2 are widely expressed, with isoform 1 being more abundant.
Involvement in disease
Defects in XPNPEP3 are the cause of nephronophthisis-like nephropathy type 1 (NPHPL1) [MIM:613159]. 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.