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Gene Review

HMBS  -  hydroxymethylbilane synthase

Homo sapiens

Synonyms: Hydroxymethylbilane synthase, PBG-D, PBGD, PORC, Porphobilinogen deaminase, ...
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Disease relevance of HMBS


Psychiatry related information on HMBS


High impact information on HMBS


Chemical compound and disease context of HMBS


Biological context of HMBS


Anatomical context of HMBS


Associations of HMBS with chemical compounds


Other interactions of HMBS


Analytical, diagnostic and therapeutic context of HMBS

  • Several crystallographic structures of HMBS have been previously determined, most recently including by time-resolved Laue protein crystallography of the Lys59Gln mutant form with reaction initiation undertaken by use of a flow cell carrying the substrate PBG [3].
  • Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC [25].
  • Reporter gene and electrophoretic mobility shift assays show that the G nucleotide at position -154, the most 5' of several transcription-initiation sites in the ubiquitous HMBS promoter, which lies immediately 3' to a transcription-factor IIB binding motif, is essential for normal transcription [26].
  • The hydroxymethylbilane synthase (HMBS) mRNAs from 44 control individuals and 30 patients suffering from acute intermittent porphyria (AIP), were screened for length differences by reverse transcriptase polymerase chain reaction (RT-PCR) and any abnormalities were characterized by direct sequencing [27].
  • We studied the gene mutation in two unrelated AIP families in the San-in district, a local area of Western Japan. The overlapping 6 fragments of the HMBS gene, amplified by the reverse transcript-polymerase chain reaction, were analyzed by the single-strand conformation polymorphism with silver staining technique [28].


  1. Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations. Whatley, S.D., Woolf, J.R., Elder, G.H. Hum. Genet. (1999) [Pubmed]
  2. Dual porphyria with mutations in both the UROD and HMBS genes. Harraway, J.R., Florkowski, C.M., Sies, C., George, P.M. Ann. Clin. Biochem. (2006) [Pubmed]
  3. Time-resolved and static-ensemble structural chemistry of hydroxymethylbilane synthase. Helliwell, J.R., Nieh, Y.P., Habash, J., Faulder, P.F., Raftery, J., Cianci, M., Wulff, M., Hädener, A. Faraday Discuss. (2003) [Pubmed]
  4. Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen. A possible mechanism for the acute attack of variegate porphyria. Meissner, P., Adams, P., Kirsch, R. J. Clin. Invest. (1993) [Pubmed]
  5. Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria. Pischik, E., Mehtälä, S., Kauppinen, R. Hum. Mutat. (2005) [Pubmed]
  6. Protein quality control in Alzheimer's disease by the ubiquitin proteasome system. de Vrij, F.M., Fischer, D.F., van Leeuwen, F.W., Hol, E.M. Prog. Neurobiol. (2004) [Pubmed]
  7. Lack of effect of pregnancy or hematin therapy on erythrocyte porphobilinogen deaminase activity in acute intermittent porphyria. Sassa, S., Kappas, A. N. Engl. J. Med. (1989) [Pubmed]
  8. Red blood cell porphobilinogen deaminase in the evaluation of acute intermittent porphyria. Pierach, C.A., Weimer, M.K., Cardinal, R.A., Bossenmaier, I.C., Bloomer, J.R., Blommer, J.R. JAMA (1987) [Pubmed]
  9. Increased porphobilinogen deaminase activity in patients with malignant lymphoproliferative diseases. A helpful diagnostic test. Lahav, M., Epstein, O., Schoenfeld, N., Shaklai, M., Atsmon, A. JAMA (1987) [Pubmed]
  10. Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase. Llewellyn, D.H., Whatley, S., Elder, G.H. Hum. Mol. Genet. (1993) [Pubmed]
  11. Studies on the mechanism of hydroxymethylbilane synthase concerning the role of arginine residues in substrate binding. Lander, M., Pitt, A.R., Alefounder, P.R., Bardy, D., Abell, C., Battersby, A.R. Biochem. J. (1991) [Pubmed]
  12. Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation. Shoolingin-Jordan, P.M., Al-Dbass, A., McNeill, L.A., Sarwar, M., Butler, D. Biochem. Soc. Trans. (2003) [Pubmed]
  13. Tissue-specific splicing mutation in acute intermittent porphyria. Grandchamp, B., Picat, C., Mignotte, V., Wilson, J.H., Te Velde, K., Sandkuyl, L., Roméo, P.H., Goossens, M., Nordmann, Y. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  14. Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation. Bowman, A.B., Yoo, S.Y., Dantuma, N.P., Zoghbi, H.Y. Hum. Mol. Genet. (2005) [Pubmed]
  15. A large deletion on chromosome 11 in acute intermittent porphyria. Di Pierro, E., Besana, V., Moriondo, V., Brancaleoni, V., Tavazzi, D., Casalgrandi, G., Ventura, P., Rocchi, E., Cappellini, M.D. Blood Cells Mol. Dis. (2006) [Pubmed]
  16. Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism. Norton, B., Lanyon, W.G., Moore, M.R., Porteous, M., Youngs, G.R., Connor, J.M. Hum. Genet. (1993) [Pubmed]
  17. Dual porphyria in double heterozygotes with porphobilinogen deaminase and uroporphyrinogen decarboxylase deficiencies. Doss, M.O. Clin. Genet. (1989) [Pubmed]
  18. New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria. Gross, U., Puy, H., Doss, M., Robreau, A.M., Nordmann, Y., Doss, M.O., Deybach, J.C. Mol. Cell. Probes (1999) [Pubmed]
  19. Chester porphyria: biochemical studies of a new form of acute porphyria. McColl, K.E., Thompson, G.G., Moore, M.R., Goldberg, A., Church, S.E., Qadiri, M.R., Youngs, G.R. Lancet (1985) [Pubmed]
  20. Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression. Chretien, S., Dubart, A., Beaupain, D., Raich, N., Grandchamp, B., Rosa, J., Goossens, M., Romeo, P.H. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  21. Rearrangements on chromosome 11q23 in hematopoietic tumor-associated t(11;14) and t(11;19) translocations. Akao, Y., Seto, M., Takahashi, T., Saito, M., Utsumi, K.R., Nakazawa, S., Ueda, R. Cancer Res. (1991) [Pubmed]
  22. Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene. Grandchamp, B., De Verneuil, H., Beaumont, C., Chretien, S., Walter, O., Nordmann, Y. Eur. J. Biochem. (1987) [Pubmed]
  23. Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. Jones, C., Slijepcevic, P., Marsh, S., Baker, E., Langdon, W.Y., Richards, R.I., Tunnacliffe, A. Hum. Mol. Genet. (1994) [Pubmed]
  24. Gene expression studies in prostate cancer tissue: which reference gene should be selected for normalization? Ohl, F., Jung, M., Xu, C., Stephan, C., Rabien, A., Burkhardt, M., Nitsche, A., Kristiansen, G., Loening, S.A., Radonić, A., Jung, K. J. Mol. Med. (2005) [Pubmed]
  25. Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC. Lam, C.W., Poon, P.M., Tong, S.F., Lo, A.W., Lai, C.K., Choi, K.L., Tiu, S.C., Chan, Y.W., Shek, C.C. Clin. Chem. (2001) [Pubmed]
  26. Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene. Whatley, S.D., Roberts, A.G., Llewellyn, D.H., Bennett, C.P., Garrett, C., Elder, G.H. Hum. Genet. (2000) [Pubmed]
  27. Acute intermittent porphyria: alternative splicing of hydroxymethylbilane synthase mRNA excludes exons 3 and 12. Ong, P.M., Lanyon, W.G., Moore, M.R., Connor, J.M. Mol. Cell. Probes (1998) [Pubmed]
  28. Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria. Tomie, Y., Horie, Y., Tajima, F., Kitaoka, S., Nanba, E., Yuasa, I., Kawasaki, H. Res. Commun. Mol. Pathol. Pharmacol. (1998) [Pubmed]
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