Aliases for PEPD Gene
External Ids for PEPD Gene
This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
GeneCards Summary for PEPD Gene
PEPD (Peptidase D) is a Protein Coding gene. Diseases associated with PEPD include prolidase deficiency and legg-calve-perthes disease. GO annotations related to this gene include manganese ion binding and metallocarboxypeptidase activity.
UniProtKB/Swiss-Prot for PEPD Gene
Splits dipeptides with a prolyl or hydroxyprolyl residue in the C-terminal position. Plays an important role in collagen metabolism because the high level of iminoacids in collagen