Uroporphyrinogen Decarboxylase (UROD)

PCT; Uroporphyrinogen III Decarboxylase

SPN	Q330
HGNC	12591
MGI	98916
PubMed	18988736
RGD	3946
UniProt	P06132
Wiki	UROD

URODencodes the fifth enzyme of the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains.Uroporphyrinogen III decarboxylase (UroD) is a homodimeric enzyme which catalyzes the fifth step in heme biosynthesis: the elimination of carboxyl groups from the four acetate side chains of uroporphyrinogen III to yield coproporphyrinogen III. At low substrate concentrations the reaction is believed to follow an ordered route, with the sequential removal of CO₂ from the D, A, B, and C rings, whereas at higher substrate/enzyme levels a random route seems to be operative. The enzyme functions as a dimer in solution, and both the enzymes from human and tobacco have been crystallized and solved at good resolutions.

Reference

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"Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda."
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"Characterization and crystallization of human uroporphyrinogen decarboxylase."
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"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of human uroporphyrinogen decarboxylase."
EMBO J. 17:2463-2471(1998) [PubMed] [Europe PMC] [Abstract]

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"Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylase."
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"Uroporphyrinogen decarboxylase structural mutant (Gly-281-->Glu) in a case of porphyria."
Science 234:732-734(1986) [PubMed] [Europe PMC] [Abstract]

"A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda."
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"Identification of a new mutation responsible for hepatoerythropoietic porphyria."
Eur. J. Clin. Invest. 21:225-229(1991) [PubMed] [Europe PMC] [Abstract]

"Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria."
Hum. Genet. 89:548-552(1992) [PubMed] [Europe PMC] [Abstract]

"Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria."
J. Invest. Dermatol. 102:681-685(1994) [PubMed] [Europe PMC] [Abstract]

"A mutation 'G281E' of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients."
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"Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria."
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"Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles."
Am. J. Hum. Genet. 63:1363-1375(1998) [PubMed] [Europe PMC] [Abstract]

"Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda."
Hum. Mutat. 13:412-412(1999) [PubMed] [Europe PMC] [Abstract]

"Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT."
Hum. Mutat. 14:222-232(1999) [PubMed] [Europe PMC] [Abstract]

"Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda."
J. Invest. Dermatol. 115:868-874(2000) [PubMed] [Europe PMC] [Abstract]

"Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT)."
Hum. Mutat. 17:350-350(2001) [PubMed] [Europe PMC] [Abstract]

"Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus."
Arch. Dermatol. 138:957-960(2002) [PubMed] [Europe PMC] [Abstract]

"Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern."
Br. J. Dermatol. 151:920-923(2004) [PubMed] [Europe PMC] [Abstract]

"Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP)."
Transl. Res. 149:85-91(2007) [PubMed] [Europe PMC] [Abstract]

"Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene."
Br. J. Dermatol. 165:499-505(2011) [PubMed] [Europe PMC] [Abstract]