- Porphobilinogen deaminase
Porphobilinogen deaminase (or hydroxymethylbilane synthase) is an
enzyme involved in the third step of the metabolism ofporphyrin , convertingporphobilinogen intohydroxymethyl bilane . The enzyme has the unique cofactordipyrromethane . Defective activity of this enzyme can lead to the disorderAcute intermittent porphyria .PBB_Summary
section_title =
summary_text = This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [cite web | title = Entrez Gene: HMBS hydroxymethylbilane synthase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3145| accessdate = ]Older sources categorize it under EC number|4.3.1.8.
References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Deybach JC, Puy H |title=Porphobilinogen deaminase gene structure and molecular defects. |journal=J. Bioenerg. Biomembr. |volume=27 |issue= 2 |pages= 197–205 |year= 1995 |pmid= 7592566 |doi=
*cite journal | author=Astrin KH, Desnick RJ |title=Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene. |journal=Hum. Mutat. |volume=4 |issue= 4 |pages= 243–52 |year= 1995 |pmid= 7866402 |doi= 10.1002/humu.1380040403
*cite journal | author=Helliwell JR, Nieh YP, Habash J, "et al." |title=Time-resolved and static-ensemble structural chemistry of hydroxymethylbilane synthase. |journal=Faraday Discuss. |volume=122 |issue= |pages= 131–44; discussion 171–90 |year= 2003 |pmid= 12555854 |doi=
*cite journal | author=Hessels J, Voortman G, van der Wagen A, "et al." |title=Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors. |journal=J. Inherit. Metab. Dis. |volume=27 |issue= 1 |pages= 19–27 |year= 2004 |pmid= 14970743 |doi= 10.1023/B:BOLI.0000016613.75677.05
*cite journal | author=Kauppinen R |title=Molecular diagnostics of acute intermittent porphyria. |journal=Expert Rev. Mol. Diagn. |volume=4 |issue= 2 |pages= 243–9 |year= 2004 |pmid= 14995910 |doi= 10.1586/14737159.4.2.243
*cite journal | author=Hrdinka M, Puy H, Martasek P |title=May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population. |journal=Physiological research / Academia Scientiarum Bohemoslovaca |volume=55 Suppl 2 |issue= |pages= S119–36 |year= 2007 |pmid= 17298216 |doi=
*cite journal | author=Kauppinen R, Peltonen L, Pihlaja H, Mustajoki P |title=CRIM-positive mutations of acute intermittent porphyria in Finland. |journal=Hum. Mutat. |volume=1 |issue= 5 |pages= 392–6 |year= 1993 |pmid= 1301948 |doi= 10.1002/humu.1380010508
*cite journal | author=Mgone CS, Lanyon WG, Moore MR, Connor JM |title=Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA. |journal=Hum. Genet. |volume=90 |issue= 1-2 |pages= 12–6 |year= 1992 |pmid= 1427766 |doi=
*cite journal | author=Gu XF, de Rooij F, Voortman G, "et al." |title=High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria. |journal=Am. J. Hum. Genet. |volume=51 |issue= 3 |pages= 660–5 |year= 1992 |pmid= 1496994 |doi=
*cite journal | author=Delfau MH, Picat C, De Rooij F, "et al." |title=Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease. |journal=Am. J. Hum. Genet. |volume=49 |issue= 2 |pages= 421–8 |year= 1991 |pmid= 1714233 |doi=
*cite journal | author=Namba H, Narahara K, Tsuji K, "et al." |title=Assignment of human porphobilinogen deaminase to 11q24.1----q24.2 by in situ hybridization and gene dosage studies. |journal=Cytogenet. Cell Genet. |volume=57 |issue= 2-3 |pages= 105–8 |year= 1991 |pmid= 1914516 |doi=
*cite journal | author=Lee JS, Anvret M |title=Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 23 |pages= 10912–5 |year= 1992 |pmid= 1961762 |doi=
*cite journal | author=Tunnacliffe A, McGuire RS |title=A physical linkage group in human chromosome band 11q23 covering a region implicated in leukocyte neoplasia. |journal=Genomics |volume=8 |issue= 3 |pages= 447–53 |year= 1991 |pmid= 1981047 |doi=
*cite journal | author=Lander M, Pitt AR, Alefounder PR, "et al." |title=Studies on the mechanism of hydroxymethylbilane synthase concerning the role of arginine residues in substrate binding. |journal=Biochem. J. |volume=275 ( Pt 2) |issue= |pages= 447–52 |year= 1991 |pmid= 2025226 |doi=
*cite journal | author=Scobie GA, Llewellyn DH, Urquhart AJ, "et al." |title=Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene. |journal=Hum. Genet. |volume=85 |issue= 6 |pages= 631–4 |year= 1990 |pmid= 2227955 |doi=
*cite journal | author=Delfau MH, Picat C, de Rooij FW, "et al." |title=Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria. |journal=J. Clin. Invest. |volume=86 |issue= 5 |pages= 1511–6 |year= 1990 |pmid= 2243128 |doi=
*cite journal | author=Lannfelt L, Wetterberg L, Lilius L, "et al." |title=Porphobilinogen deaminase in human erythrocytes: purification of two forms with apparent molecular weights of 40 kDa and 42 kDa. |journal=Scand. J. Clin. Lab. Invest. |volume=49 |issue= 7 |pages= 677–84 |year= 1990 |pmid= 2609111 |doi=
*cite journal | author=Grandchamp B, Picat C, de Rooij F, "et al." |title=A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria. |journal=Nucleic Acids Res. |volume=17 |issue= 16 |pages= 6637–49 |year= 1989 |pmid= 2789372 |doi=
*cite journal | author=Raich N, Romeo PH, Dubart A, "et al." |title=Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase. |journal=Nucleic Acids Res. |volume=14 |issue= 15 |pages= 5955–68 |year= 1986 |pmid= 2875434 |doi=
*cite journal | author=Vidaud M, Gattoni R, Stevenin J, "et al." |title=A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=86 |issue= 3 |pages= 1041–5 |year= 1989 |pmid= 2915972 |doi=PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes
Wikimedia Foundation. 2010.
