PEPD wt Allele

Preferred Label : PEPD wt Allele;

NCIt synonyms : Aminoacyl-L-Proline Hydrolase Gene; PROLIDASE; PRD; Peptidase D wt Allele;

NCIt definition : Human PEPD wild-type allele is located in the vicinity of 19q13.11 and is approximately 135 kb in length. This allele, which encodes Xaa-Pro dipeptidase protein, is involved in collagen remodeling and proline recycling. Loss of function mutations in the gene are associated with prolidase deficiency.;

NCI Metathesaurus CUI : CL1799128;

GenBank Accession Number : BC015027;

Details

Origin ID

C190598;

UMLS CUI

C5781894;

Automatic exact mappings (from CISMeF team)
- Peptidase D [OMIM gene]
- Proline dipeptidase [LOINC component]
- Proline dipeptidase (substance) [SNOMED CT concept]
- Retinal dysplasia, primary [OMIM Phenotype]
- proline dipeptidase [MeSH Supplementary Concept]
OMIM relation
- Peptidase D [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- peptidase D [HGNC gene]
- peptidase D [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Peptide Metabolism [NCIt concept]
- Protein Degradation Process [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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