Uroporfirinogeno decarbossilasi

Questa voce sull'argomento enzimi è solo un abbozzo.

Contribuisci a migliorarla secondo le convenzioni di Wikipedia. Segui i suggerimenti del progetto di riferimento.

Uroporfirinogeno decarbossilasi
Modello tridimensionale dell'enzima
Numero EC	4.1.1.37
Classe	Liasi
Nome sistematico
purina-nucleoside:fosfato ribosiltransferasi
Altri nomi
UROD
Banche dati	BRENDA, EXPASY, GTD, PDB (RCSB PDB PDBe PDBj PDBsum)
Fonte: IUBMB
Modifica dati su Wikidata · Manuale

L'uroporfirinogeno decarbossilasi è un enzima facente parte del processo biosintetico dell'eme che trasforma l'uroporfirinogeno I o l'uroporfirinogeno III in coproporfirinogeno I o coproporfirinogeno III, ciascuno nel corrispondente. Agisce sui gruppi acetato dell'uroporfirinogeno trasformandoli in gruppi metilici. L'enzima è inibito dai sali del ferro.

Quando una mutazione si verifica in uno dei due alleli di questo enzima si sviluppa la porfiria cutanea tarda. Tale mutazione riduce del 50% l'attività enzimatica della proteina.^[1]

Note

^ Entrez Gene: UROD uroporphyrinogen decarboxylase, su ncbi.nlm.nih.gov.

Bibliografia

Elder GH, Lee GB, Tovey JA, Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda., in N. Engl. J. Med., vol. 299, n. 6, 1978, pp. 274–8, DOI:10.1056/NEJM197808102990603, PMID 661926.
de Verneuil H, Bourgeois F, de Rooij F, et al., Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria., in Hum. Genet., vol. 89, n. 5, 1992, pp. 548–52, PMID 1634232.
Romana M, Grandchamp B, Dubart A, et al., Identification of a new mutation responsible for hepatoerythropoietic porphyria., in Eur. J. Clin. Invest., vol. 21, n. 2, 1991, pp. 225–9, DOI:10.1111/j.1365-2362.1991.tb01814.x, PMID 1905636.
Garey JR, Harrison LM, Franklin KF, et al., Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda., in J. Clin. Invest., vol. 86, n. 5, 1990, pp. 1416–22, DOI:10.1172/JCI114856, PMC 296884, PMID 2243121.
Garey JR, Hansen JL, Harrison LM, et al., A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda., in Blood, vol. 73, n. 4, 1989, pp. 892–5, PMID 2920211.
Roméo PH, Raich N, Dubart A, et al., Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA., in J. Biol. Chem., vol. 261, n. 21, 1986, pp. 9825–31, PMID 3015909.
Dubart A, Mattei MG, Raich N, et al., Assignment of human uroporphyrinogen decarboxylase (URO-D) to the p34 band of chromosome 1., in Hum. Genet., vol. 73, n. 3, 1986, pp. 277–9, DOI:10.1007/BF00401245, PMID 3460962.
Romana M, Dubart A, Beaupain D, et al., Structure of the gene for human uroporphyrinogen decarboxylase., in Nucleic Acids Res., vol. 15, n. 18, 1987, pp. 7343–56, DOI:10.1093/nar/15.18.7343, PMC 306252, PMID 3658695.
de Verneuil H, Grandchamp B, Beaumont C, et al., Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria., in Science, vol. 234, n. 4777, 1986, pp. 732–4, DOI:10.1126/science.3775362, PMID 3775362.
Roberts AG, Elder GH, De Salamanca RE, et al., 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., in J. Invest. Dermatol., vol. 104, n. 4, 1995, pp. 500–2, DOI:10.1111/1523-1747.ep12605953, PMID 7706766.
Maruyama K, Sugano S, Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides., in Gene, vol. 138, 1–2, 1994, pp. 171–4, DOI:10.1016/0378-1119(94)90802-8, PMID 8125298.
Meguro K, Fujita H, Ishida N, et al., Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria, in J. Invest. Dermatol., vol. 102, n. 5, 1994, pp. 681–5, DOI:10.1111/1523-1747.ep12374134, PMID 8176248.
Moran-Jimenez MJ, Ged C, Romana M, et al., Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria, in Am. J. Hum. Genet., vol. 58, n. 4, 1996, pp. 712–21, PMC 1914669, PMID 8644733.
McManus JF, Begley CG, Sassa S, Ratnaike S, Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria, in Blood, vol. 88, n. 9, 1996, pp. 3589–600, PMID 8896428.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al., Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library, in Gene, vol. 200, 1–2, 1997, pp. 149–56, DOI:10.1016/S0378-1119(97)00411-3, PMID 9373149.
Whitby FG, Phillips JD, Kushner JP, Hill CP, Crystal structure of human uroporphyrinogen decarboxylase, in EMBO J., vol. 17, n. 9, 1998, pp. 2463–71, DOI:10.1093/emboj/17.9.2463, PMC 1170588, PMID 9564029.
Mendez M, Sorkin L, Rossetti MV, et al., Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles, in Am. J. Hum. Genet., vol. 63, n. 5, 1998, pp. 1363–75, DOI:10.1086/302119, PMC 1377546, PMID 9792863.
Wang H, Long Q, Marty SD, et al., A zebrafish model for hepatoerythropoietic porphyria, in Nat. Genet., vol. 20, n. 3, 1998, pp. 239–43, DOI:10.1038/3041, PMID 9806541.
McManus JF, Begley CG, Sassa S, Ratnaike S, <412::AID-HUMU13>3.0.CO;2-N Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online, in Hum. Mutat., vol. 13, n. 5, 1999, p. 412, DOI:10.1002/(SICI)1098-1004(1999)13:5<412::AID-HUMU13>3.0.CO;2-N, PMID 10338097.
Christiansen L, Ged C, Hombrados I, et al., <222::AID-HUMU5>3.0.CO;2-V Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT, in Hum. Mutat., vol. 14, n. 3, 1999, pp. 222–32, DOI:10.1002/(SICI)1098-1004(1999)14:3<222::AID-HUMU5>3.0.CO;2-V, PMID 10477430.