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Gene Review

UROD  -  uroporphyrinogen decarboxylase

Homo sapiens

Synonyms: PCT, UPD, URO-D, Uroporphyrinogen decarboxylase
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Disease relevance of UROD

  • All mutations were observed in conjunction with decreased erythrocyte UROD and clinical familial porphyria cutanea tarda (fPCT), (four families) or hepatoerythropoietic porphyria (HEP), (one family) [1].
  • In contrast to the null activity previously described for a mutant UROD from a patient with familial porphyria cutanea tarda, these mutant URODs had subnormal but substantial enzyme activities, when expressed in Chinese hamster ovary cells [2].
  • Mild to moderate iron overload is common in PCT, as iron is one of the factors which trigger the clinical manifestations of the disease through the inactivation of URO-D [3].
  • In PCT patients with liver disease, the presence of the mutation could contribute to the inactivation of URO-D, either directly or through a synergistic action with other factors that cause liver damage [3].
  • Porphyria cutanea tarda (PCT), a disorder characterized by a photosensitive dermatosis and hepatic siderosis, is caused by a decreased activity of the hepatic enzyme uroporphyrinogen decarboxylase (UROD) [4].

Psychiatry related information on UROD

  • The UPD group, although impaired on a spatial recognition task, showed intact discrimination learning and reversal; the MPD and SPD patients showed non-perseverative reversal impairments on both reversal tasks [5].
  • More visuospatial deficits tend to be found in BPD and UPD than in schizophrenia, thereby raising the possibility of greater involvement of right hemisphere systems in mood disorders [6].
  • Porphyria cutanea tarda, which is due to a deficiency of uroporphyrinogen decarboxylase, is manifested in association with alcohol abuse, estrogen therapy, exposure to chlorinated hydrocarbons or increased tissue iron stores, or a combination of these factors [7].
  • Chronic alcohol consumption in rats leads to a decrease in uroporphyrinogen decarboxylase activity in liver and spleen, associated with a pathologic porphyrinuria [8].
  • RESULTS: UPD cases exhibited significantly more autistic-like impairments in reciprocal social interaction on questionnaire, interview and standardised observational measures [9].

High impact information on UROD


Chemical compound and disease context of UROD


Biological context of UROD


Anatomical context of UROD


Associations of UROD with chemical compounds

  • The lysine to glutamine at amino acid position 253 was found in conjunction with a single C nucleotide deletion in exon 8 on the same allele of the UROD gene in the same family [1].
  • UROD (0.03 nM) also enhanced the guanylin-induced natriuresis (to %ENa(+)=31.0+/-1.93, P<0.05, 120 min) and kaliuresis (to %EK(+)=54.2+/-3.61, P<0.05, 120 min), and inhibited the %ENa(+) of uroguanylin (0.31 muM) to 17.9+/-1.67 as well as its %EK(+) to 24.3+/-3.13 (both at 120 min, P<0.05) [27].
  • Atrial natriuretic peptide (ANP) and its renal form (urodilatin, UROD) elicit natriuretic effects by activation of a different membrane guanylate cyclase, GC-A [27].
  • Neither ethanol nor estrogen has been shown to cause UROD-deficiency in animals [28].
  • No invariant cysteine residues were found, despite the fact that UROD isolated from different sources has been shown to be inhibited by sulfhydryl reagents [29].

Other interactions of UROD


Analytical, diagnostic and therapeutic context of UROD


  1. Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria. McManus, J.F., Begley, C.G., Sassa, S., Ratnaike, S. Blood (1996) [Pubmed]
  2. Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. Meguro, K., Fujita, H., Ishida, N., Akagi, R., Kurihara, T., Galbraith, R.A., Kappas, A., Zabriskie, J.B., Toback, A.C., Harber, L.C. J. Invest. Dermatol. (1994) [Pubmed]
  3. High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. Sampietro, M., Piperno, A., Lupica, L., Arosio, C., Vergani, A., Corbetta, N., Malosio, I., Mattioli, M., Fracanzani, A.L., Cappellini, M.D., Fiorelli, G., Fargion, S. Hepatology (1998) [Pubmed]
  4. Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT). Lamoril, J., Andant, C., Gouya, L., Malonova, E., Grandchamp, B., Martásek, P., Deybac, J.C., Puy, H. Cell. Mol. Biol. (Noisy-le-grand) (2002) [Pubmed]
  5. Probabilistic learning and reversal deficits in patients with Parkinson's disease or frontal or temporal lobe lesions: possible adverse effects of dopaminergic medication. Swainson, R., Rogers, R.D., Sahakian, B.J., Summers, B.A., Polkey, C.E., Robbins, T.W. Neuropsychologia. (2000) [Pubmed]
  6. Cognition in bipolar disorder. Osuji, I.J., Cullum, C.M. Psychiatr. Clin. North Am. (2005) [Pubmed]
  7. Porphyria cutanea tarda: clinical and laboratory features. Sweeney, G.D., Jones, K.G. Canadian Medical Association journal. (1979) [Pubmed]
  8. Alcohol-induced decrease in uroporphyrinogen decarboxylase activity in rat liver and spleen. Doss, M., von Tiepermann, R., Stutz, G., Teschke, R. Enzyme (1981) [Pubmed]
  9. Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype. Milner, K.M., Craig, E.E., Thompson, R.J., Veltman, M.W., Thomas, N.S., Roberts, S., Bellamy, M., Curran, S.R., Sporikou, C.M., Bolton, P.F. Journal of child psychology and psychiatry, and allied disciplines. (2005) [Pubmed]
  10. Paracrine signaling through the JAK/STAT pathway activates invasive behavior of ovarian epithelial cells in Drosophila. Silver, D.L., Montell, D.J. Cell (2001) [Pubmed]
  11. Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage. Toback, A.C., Sassa, S., Poh-Fitzpatrick, M.B., Schechter, J., Zaider, E., Harber, L.C., Kappas, A. N. Engl. J. Med. (1987) [Pubmed]
  12. Decreased hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda. Felsher, B.F., Carpio, N.M., Engleking, D.W., Nunn, A.T. N. Engl. J. Med. (1982) [Pubmed]
  13. Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda. Elder, G.H., Lee, G.B., Tovey, J.A. N. Engl. J. Med. (1978) [Pubmed]
  14. Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. Ged, C., Ozalla, D., Herrero, C., Lecha, M., Mendez, M., de Verneuil, H., Mascaro, J.M. Archives of dermatology. (2002) [Pubmed]
  15. Effects of chlorinated organics on intermediates in the heme pathway and on uroporphyrinogen decarboxylase. Cantoni, L., Rizzardini, M., Graziani, A., Carugo, C., Garattini, S. Ann. N. Y. Acad. Sci. (1987) [Pubmed]
  16. High-dose vitamin E lowers urine porphyrin levels in patients affected by porphyria cutanea tarda. Pinelli, A., Trivulzio, S., Tomasoni, L., Bertolini, B., Pinelli, G. Pharmacol. Res. (2002) [Pubmed]
  17. Dual mechanism of inhibition of rat liver uroporphyrinogen decarboxylase activity by ferrous iron: its potential role in the genesis of porphyria cutanea tarda. Mukerji, S.K., Pimstone, N.R., Burns, M. Gastroenterology (1984) [Pubmed]
  18. Effects of polychlorinated biphenyl compounds, 2,3,7,8-tetrachlorodibenzo-p-dioxin, phenobarbital and iron on hepatic uroporphyrinogen decarboxylase. Implications for the pathogenesis of porphyria. De Verneuil, H., Sassa, S., Kappas, A. Biochem. J. (1983) [Pubmed]
  19. Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT. Christiansen, L., Ged, C., Hombrados, I., Brons-Poulsen, J., Fontanellas, A., de Verneuil, H., Hørder, M., Petersen, N.E. Hum. Mutat. (1999) [Pubmed]
  20. Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. Armstrong, D.K., Sharpe, P.C., Chambers, C.R., Whatley, S.D., Roberts, A.G., Elder, G.H. Br. J. Dermatol. (2004) [Pubmed]
  21. Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT). Cappellini, M.D., Martinez di Montemuros, F., Tavazzi, D., Fargion, S., Pizzuti, A., Comino, A., Cainelli, T., Fiorelli, G. Hum. Mutat. (2001) [Pubmed]
  22. Dual porphyria in double heterozygotes with porphobilinogen deaminase and uroporphyrinogen decarboxylase deficiencies. Doss, M.O. Clin. Genet. (1989) [Pubmed]
  23. The influence of carbamazepine on the heme biosynthetic pathway. Schoenfeld, N., Greenblat, Y., Epstein, O., Atsmon, A. Biochemical medicine. (1985) [Pubmed]
  24. A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda. Garey, J.R., Hansen, J.L., Harrison, L.M., Kennedy, J.B., Kushner, J.P. Blood (1989) [Pubmed]
  25. Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA. Roméo, P.H., Raich, N., Dubart, A., Beaupain, D., Pryor, M., Kushner, J., Cohen-Solal, M., Goossens, M. J. Biol. Chem. (1986) [Pubmed]
  26. Assignment of human uroporphyrinogen decarboxylase (URO-D) to the p34 band of chromosome 1. Dubart, A., Mattei, M.G., Raich, N., Beaupain, D., Romeo, P.H., Mattei, J.F., Goossens, M. Hum. Genet. (1986) [Pubmed]
  27. Interaction of atrial natriuretic peptide, urodilatin, guanylin and uroguanylin in the isolated perfused rat kidney. Santos-Neto, M.S., Carvalho, A.F., Monteiro, H.S., Forte, L.R., Fonteles, M.C. Regul. Pept. (2006) [Pubmed]
  28. Porphyria cutanea tarda, or the uroporphyrinogen decarboxylase deficiency diseases. Sweeney, G.D. Clin. Biochem. (1986) [Pubmed]
  29. Nucleotide sequence of the Synechococcus sp. PCC7942 hemE gene encoding the homologue of mammalian uroporphyrinogen decarboxylase. Kiel, J.A., Ten Berge, A.M., Venema, G. DNA Seq. (1992) [Pubmed]
  30. Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. Mendez, M., Sorkin, L., Rossetti, M.V., Astrin, K.H., del C Batlle, A.M., Parera, V.E., Aizencang, G., Desnick, R.J. Am. J. Hum. Genet. (1998) [Pubmed]
  31. Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. Phillips, J.D., Parker, T.L., Schubert, H.L., Whitby, F.G., Hill, C.P., Kushner, J.P. Blood (2001) [Pubmed]
  32. Regulation of heme synthesis in HepG2 human hepatoma cells by dimethyl sulfoxide. Galbraith, R.A., Sassa, S., Fujita, H. Biochem. Biophys. Res. Commun. (1988) [Pubmed]
  33. Red-cell uroporphyrinogen decarboxylase activity in porphyria cutanea tarda and in other forms of porphyria. Felsher, B.F., Norris, M.E., Shih, J.C. N. Engl. J. Med. (1978) [Pubmed]
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