Literature summary for 3.4.13.9 extracted from

Wang, H.; Kurien, B.T.; Lundgren, D.; Patel, N.C.; Kaufman, K.M.; Miller, D.L.; Porter, A.C.; DSouza, A.; Nye, L.; Tumbush, J.; Hupertz, V.; Kerr, D.S.; Kurono, S.; Matsumoto, H.; Scofield, R.H.
A nonsense mutation of PEPD in four Amish children with prolidase deficiency (2006), Am. J. Med. Genet. A, 140, 580-585.

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Application

Application	Comment	Organism
medicine	patients with severe phenotype of enzyme deficiency showing infection, hepatosplenomegaly, thrombocytopenia, classic skin ulcers, and multisystem involvement. Enzyme activity in patients is nearly undetectable due to a single nucleotide mutation c.793 T>C in exon 11, resulting in a premature stop codon at amino acid residue 265	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patients with enzyme deficiency	-

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Release 2023.1 (January 2023)