What does this protein make up or do? Chapter 19: Chromosome 19 DNA Sequence Name of Protein Chromosome Peptidase D Name of Gene 19 134,945 PEPD Amino acid sequence mRNA 493 aa protein translation Cytoplasm A Cell Nucleus What does this protein make up or do? Condition/Disease Peptidase D

What is PEPD? PEPD is a paroxysmal extreme pain disorder, originally named familial rectal pain syndrome, is a rare disorder whose most notable features are pain in the mandibular, ocular and rectal areas as well as flushing.

Description of PEPD Symptoms and Peptidase D (PROLIDASE) burning pain in the rectal, ocular, and mandibular pain in association with autonomic symptoms such as skin flushing, tonic-nonepileptic seizures, bradycardia, or apnea. If peptidase remains untreated, people may have secondary skin infections or any other infections. In order to confirm the diagnosis, a blood test is required to measure the action of the prolidase enzyme. As viewed by a person with PEPD

Other facts about PEPD How common is it? How do we get this? Prolidase (PEPD) deficiency is a rare disorder. Approximately 70 individuals with this disorder have been documented in the medical literature, and researchers have estimated that the condition occurs in approximately 1 in 1 million to 1 in 2 million newborns. It is more common in certain areas in northern Israel, both among members of a religious minority called the Druze and in nearby Arab Moslem populations. How do we get this? This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition Researcher: MS

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