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Reviewed February 2012
What is the official name of the PEPD gene?
The official name of this gene is “peptidase D.”
PEPD is the gene's official symbol. The PEPD gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the PEPD gene?
The PEPD gene provides instructions for making the enzyme prolidase, also called peptidase D. Prolidase helps divide certain dipeptides, which are molecules composed of two protein building blocks (amino acids). Specifically, prolidase divides dipeptides containing the amino acids proline or hydroxyproline. By freeing these amino acids, prolidase helps make them available for use in producing proteins that the body needs.
Prolidase is also involved in the final step of the breakdown of some proteins obtained though the diet and proteins that are no longer needed in the body. Prolidase is particularly important in the breakdown of collagens, a family of proteins that are rich in proline and hydroxyproline. Collagens are an important part of the extracellular matrix, which is the lattice of proteins and other molecules outside the cell. The extracellular matrix strengthens and supports connective tissues, such as skin, bone, cartilage, tendons, and ligaments. Collagen breakdown occurs during the maintenance (remodeling) of the extracellular matrix.
How are changes in the PEPD gene related to health conditions?
Where is the PEPD gene located?
Cytogenetic Location: 19q13.11
Molecular Location on chromosome 19: base pairs 33,386,948 to 33,521,892
The PEPD gene is located on the long (q) arm of chromosome 19 at position 13.11.
More precisely, the PEPD gene is located from base pair 33,386,948 to base pair 33,521,892 on chromosome 19.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PEPD?
You and your healthcare professional may find the following resources about PEPD helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the PEPD gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PEPD?
acids ; breakdown ; cartilage ; cell ; collagen ; deficiency ; disability ; enzyme ; extracellular ; extracellular matrix ; gene ; hydrolase ; inflammation ; L-proline ; Pro ; proline ; protein ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.