PREPL Antibody – Rabbit Polyclonal

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]

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: Protease; EC 3.4.21.-

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