Aliases for PREPL Gene
External Ids for PREPL Gene
Previous GeneCards Identifiers for PREPL Gene
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]
GeneCards Summary for PREPL Gene
PREPL (Prolyl Endopeptidase Like) is a Protein Coding gene. Diseases associated with PREPL include Myasthenic Syndrome, Congenital, 22 and Premature Ovarian Failure 1. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type exopeptidase activity. An important paralog of this gene is PREP.
UniProtKB/Swiss-Prot Summary for PREPL Gene
Serine peptidase whose precise substrate specificity remains unclear (PubMed:16143824, PubMed:16385448, PubMed:28726805). Does not cleave peptides after a arginine or lysine residue (PubMed:16143824). Regulates trans-Golgi network morphology and sorting by regulating the membrane binding of the AP-1 complex (PubMed:23321636). May play a role in the regulation of synaptic vesicle exocytosis (PubMed:24610330).