PEPD Chromosome 19
Peptidase D
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What This Gene Does
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]
Gene Info
Gene Group
M24 metallopeptidase family
Locus Type
gene with protein product
Location
19q13.11
Ensembl
ENSG00000124299
Associated Conditions (9)
Prolidase deficiency
PEPD-related disorder
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Melanoma
Nonpapillary renal cell carcinoma
Megaconial type congenital muscular dystrophy
Key Variants
RS1568445341
Conflicting classifications of pathogenicity
Health Risk
RS200435937
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
RS200931112
Conflicting classifications of pathogenicity
Health Risk
RS201865747
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
RS369197590
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
RS370100218
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
RS370105932
Conflicting classifications of pathogenicity
Prolidase deficiency, PEPD-related disorder, Prolidase deficiency
Health Risk
RS370219399
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
RS371699300
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
RS372949783
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
RS373639982
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
RS374919986
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
All Variants (87)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121917725 | Health Risk | Pathogenic | Prolidase deficiency, Prolidase deficiency |
| RS1473308366 | Health Risk | Pathogenic | — |
| RS1600147235 | Health Risk | Pathogenic | Prolidase deficiency, Prolidase deficiency |
| RS2145335364 | Health Risk | Pathogenic | — |
| RS2513375040 | Health Risk | Pathogenic | — |
| RS2513375048 | Health Risk | Pathogenic | — |
| RS2513380433 | Health Risk | Pathogenic | — |
| RS2513380450 | Health Risk | Pathogenic | — |
| RS2513396318 | Health Risk | Pathogenic | — |
| RS2513396675 | Health Risk | Pathogenic | — |
| RS2513412559 | Health Risk | Pathogenic | — |
| RS2513465496 | Health Risk | Pathogenic | — |
| RS2513524236 | Health Risk | Pathogenic | — |
| RS2513524445 | Health Risk | Pathogenic | — |
| RS2513526292 | Health Risk | Pathogenic | — |
| RS267606943 | Health Risk | Pathogenic | Prolidase deficiency, Prolidase deficiency |
| RS267606944 | Health Risk | Pathogenic | Prolidase deficiency, Prolidase deficiency |
| RS375391662 | Health Risk | Pathogenic | Prolidase deficiency, Prolidase deficiency |
| RS529315200 | Health Risk | Pathogenic | — |
| RS542228812 | Health Risk | Pathogenic | Prolidase deficiency, Thyroid cancer, nonmedullary |
| RS747638822 | Health Risk | Pathogenic | — |
| RS753775083 | Health Risk | Pathogenic | — |
| RS754287293 | Health Risk | Pathogenic | — |
| RS755947485 | Health Risk | Pathogenic | — |
| RS756506775 | Health Risk | Pathogenic | — |
| RS769006603 | Health Risk | Pathogenic | — |
| RS794728008 | Health Risk | Pathogenic | Prolidase deficiency, Prolidase deficiency |
| RS1170952773 | Health Risk | Pathogenic/Likely pathogenic | Prolidase deficiency, Prolidase deficiency |
| RS121917723 | Health Risk | Pathogenic/Likely pathogenic | Prolidase deficiency, Prolidase deficiency |
| RS121917724 | Health Risk | Pathogenic/Likely pathogenic | Prolidase deficiency, Prolidase deficiency |
| RS745834191 | Health Risk | Pathogenic/Likely pathogenic | Prolidase deficiency, PEPD-related disorder, Prolidase deficiency |
| RS747700126 | Health Risk | Pathogenic/Likely pathogenic | Prolidase deficiency, Prolidase deficiency |
| RS750548522 | Health Risk | Pathogenic/Likely pathogenic | Prolidase deficiency, Megaconial type congenital muscular dystrophy, Prolidase deficiency |
| RS752145794 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS764650519 | Health Risk | Pathogenic/Likely pathogenic | Prolidase deficiency, Prolidase deficiency, Prolidase deficiency |
| RS797045185 | Health Risk | Pathogenic/Likely pathogenic | Prolidase deficiency, Prolidase deficiency |
| RS907881705 | Health Risk | Pathogenic/Likely pathogenic | Prolidase deficiency, Prolidase deficiency |