Human X-Prolyl Aminopeptidase 3 (XPNPEP3) ELISA Kit | XPNPEP3 elisa kit
Human X-Prolyl Aminopeptidase 3 (XPNPEP3) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: EC 3.4.11.9; Protease
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
Research Articles on XPNPEP3
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Product Notes
The Human XPNPEP3 xpnpep3 (Catalog #AAA9312060) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9312060 ELISA Kit recognizes Human XPNPEP3. It is sometimes possible for the material contained within the vial of "X-Prolyl Aminopeptidase 3 (XPNPEP3), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
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