Structural and kinetic characterization of mutant human uroporphyrinogen decarboxylases.

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Article

Structural and kinetic characterization of mutant human uroporphyrinogen decarboxylases.

Cellular and molecular biology (Noisy-le-Grand, France) - 1 Jul 2009

Warby C A, Phillips J D, Bergonia H A, Whitby F G, Hill C P, Kushner J P

Abstract excerpt

Porphyria cutanea tarda (PCT) is caused by inhibition of uroporphyrinogen decarboxylase (URO-D) activity in hepatocytes. Subnormal URO-D activity results in accumulation and urinary excretion of uroporphyrin and heptacarboxyl porphyrin. Heterozygosity for mutations in the URO-D gene is found in the familial form of PCT (F-PCT). Over 70 mutations of URO-D have been described but very few have been characterized...

Topics

Adult
Aged
Catalytic Domain
Crystallography, X-Ray
Female
Genotype
Heterozygote
Humans
Kinetics
Male
Middle Aged
Polymorphism, Single Nucleotide
Porphyria Cutanea Tarda
Protein Stability
Recombinant Proteins
Uroporphyrinogen Decarboxylase

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Identifiers

PMID: 19656450
PMCID: PMC2863003

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