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Article

Expression and molecular analysis of mutations in prolidase deficiency.

American journal of human genetics - 1 Nov 1996

Ledoux P, Scriver C R, Hechtman P

Abstract excerpt

Prolidase (E.C.3.4.13.9) cleaves iminodipeptides. Prolidase deficiency (PD; McKusick 170100) is an autosomal recessive disorder with highly variable penetrance. We have identified two novel alleles in the prolidase gene (PEPD) by direct sequencing of PCR-amplified cDNA from a PD individual asymptomatic at age 11 years: a 551G-->A transition in exon 8 (R184Q) and a 833G-->A transition in exon 12 (G278D). To assess...

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Identifiers

PMID: 8900231
PMCID: PMC1914827

Genes

PEPD

Variants

Provenance

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Related research

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Expression and molecular analysis of mutations in prolidase deficiency.PMID 8900231Read ↗

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A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.Semantic proximity Read ↗

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Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations.Semantic proximity Read ↗

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