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 Hypotonia-Cystinuria Syndrome and Atypical Hypotonia-Cystinuria Syndrome. 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 for PREPL Gene
Probable serine peptidase whose precise substrate specificity remains unclear. Does not cleave peptides after a arginine or lysine residue.