Print friendly version
Other Names for this Disease
- Imidodipeptidase deficiency
- Peptidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
On this page
Prolidase deficiency is a genetic disorder caused by a mutation of a gene called peptidase D (PEPD). The PEPD gene is located on chromosome 19 and it has the information on how to make the enzyme prolidase, which has a role breaking and recycling proteins, including collagen. Collagen is a protein widely distributed in the body and provides structural support (like a skeleton) to internal organs and connective tissues such as skin, bones,tendons, and ligaments.
Last updated: 3/18/2010
- PEPD. Genetics Home Reference. March 7, 2010; http://ghr.nlm.nih.gov/gene=pepd. Accessed 3/8/2010.
- PEPD. 2. Online Mendelian Inheritance in Man. February 2, 2010; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=613230. Accessed 3/16/2010.