PEPD peptidase D
Gene ID: 5184, updated on 3-Nov-2024Gene type: protein coding
Also known as: PROLIDASE
Summary
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]
Associated conditions
| Description | Tests |
|---|---|
| A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. GeneReviews: Not available | |
| A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. GeneReviews: Not available | |
| Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. GeneReviews: Not available | |
| Prolidase deficiency | See labs |
Genomic context
- Location:
- 19q13.11
- Sequence:
- Chromosome: 19; NC_000019.10 (33386950..33521791, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| SNP | Variation Viewer for PEPD variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
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