Peptidase D

Alternative Names

  • PEPD
  • Prolidase
  • Imidodipeptidase

Associated Diseases

Prolidase Deficiency
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OMIM Number

613230

NCBI Gene ID

5184

Uniprot ID

P12955

Length

134,842 bases

No. of Exons

15

No. of isoforms

3

Protein Name

Xaa-Pro dipeptidase

Molecular Mass

54548 Da

Amino Acid Count

493

Genomic Location

chr19:33,386,950-33,521,791

Gene Map Locus
19q13.11

Description

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.[From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000285.4:c.549-1G>ALebanonNC_000019.10:g.33464063C>TPathogenicLikely PathogenicProlidase DeficiencyNG_013358.2:g.62831G>A; NM_000285.4:c.549-1G>A1204749077807649
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