present in Gene: PEPD
present in Chromosome: 19
Position on Chromosome: 33401862
Alleles of this Variant: C/G;T
rs121917721 in
PEPD gene and
Deficiency of prolidase
PMID 12384772 2002 Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.
PMID 8900231 1996 Expression and molecular analysis of mutations in prolidase deficiency.
PMID 8198124 1994 Four novel PEPD alleles causing prolidase deficiency.
PMID 2365824 1990 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.