The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Protein concentration is above or equal to 0.05 mg/ml.
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Preparation and Storage
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.31% Glutathione, 0.79% Tris HCl
putative prolyl oligopeptidase
Probable serine peptidase whose precise substrate specificity remains unclear. Does not cleave peptides after a arginine or lysine residue.
Widely expressed. Expressed at higher level in brain, skeletal muscle, heart and kidney.
Involvement in disease
Defects in PREPL are a cause of hypotonia-cystinuria syndrome (HCS) [MIM:606407]. 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.