Ontology highlight
ABSTRACT:
SUBMITTER: Insolia V
PROVIDER: S-EPMC4194396 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
European journal of histochemistry : EJH 20140917 3
Prolidase gene (PEPD) encodes prolidase enzyme, which is responsible for hydrolysis of dipeptides containing proline or hydroxyproline at their C-terminal end. Mutations in PEPD gene cause, in human, prolidase deficiency (PD), a rare autosomal recessive disorder. PD patients show reduced or absent prolidase activity and a broad spectrum of phenotypic traits including various degrees of mental retardation. This is the first report correlating PD and brain damages using as a model system prolidase ...[more]