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BRENDA support

Literature summary for 3.4.13.9 extracted from

  • Lupi, A.; De Riso, A.; Torre, S.D.; Rossi, A.; Campari, E.; Vilarinho, L.; Cetta, G.; Forlino, A.
    Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship (2004), J. Hum. Genet., 49, 500-506.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
Y231del homozygous mutation observed in two unrelated patients with enzyme deficiency. Mutation results in loss of enzyme activity in skin fibroblasts. Long-term cultured fibroblasts bearing the mutant accumulate Gly-L-Pro dipeptide intracellularly Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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patients with enzyme deficiency
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Source Tissue

Source Tissue Comment Organism Textmining
fibroblast derived from skin Homo sapiens
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skin
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Homo sapiens
-