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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Prolidase deficiency


Other Names for this Disease
  • Hyperimidodipeptiduria
  • Imidodipeptidase deficiency
  • PD
  • Peptidase deficiency
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Cause


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What causes prolidase deficiency?

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.[1][2] 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

References
  1. PEPD. Genetics Home Reference. March 7, 2010; http://ghr.nlm.nih.gov/gene=pepd. Accessed 3/8/2010.
  2. 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.