Human prolyl endopeptidase-like ELISA Kit | PREPL elisa kit
Human Prolyl endopeptidase-like, PREPL ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010]
Uniprot Description
PREPL: Probable serine peptidase whose precise substrate specificity remains unclear. Does not cleave peptides after a arginine or lysine residue. Defects in PREPL are a cause of hypotonia-cystinuria syndrome (HCS). HCS is characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. HCS is caused by a deletion that disrups both SLC3A1 and PREPL genes. As SLC3A1 is known to cause isolated cystinuria type I, the extended phenotype could be attributed to the deletion of PREPL. Belongs to the peptidase S9A family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 3.4.21.-; Protease
Chromosomal Location of Human Ortholog: 2p21
Cellular Component: Golgi apparatus; cytoskeleton; cytosol
Molecular Function: serine-type endopeptidase activity
Biological Process: proteolysis
Disease: Hypotonia-cystinuria Syndrome
Research Articles on PREPL
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Product Notes
The Human PREPL prepl (Catalog #AAA9330304) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9330304 ELISA Kit recognizes Human PREPL. It is sometimes possible for the material contained within the vial of "prolyl endopeptidase-like, 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
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