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Hydroxymethylbilane Synthase (HMBS)

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PBG-D; PBGD; UPS; Hydroxymethylbilane Synthase; Uroporphyrinogen I Synthase; Porphobilinogen deaminase; Pre-uroporphyrinogen synthase

Hydroxymethylbilane Synthase (HMBS)
CCC E673
HGNC 4982
MGI 96112
PubMed 11857754
RGD 2801
UniProt P08397
Wiki HMBS
Porphobilinogen deaminase is an enzyme involved in the third step of the metabolism of porphyrin, converting porphobilinogen into hydroxymethyl bilane. The enzyme has the unique cofactor dipyrromethane. Defective activity of this enzyme can lead to the disorder Acute intermittent porphyria.
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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPE673Hu01 Recombinant Hydroxymethylbilane Synthase (HMBS) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAE673Hu01 Polyclonal Antibody to Hydroxymethylbilane Synthase (HMBS) WB; IHC; ICC; IP.
MAE673Hu21 Monoclonal Antibody to Hydroxymethylbilane Synthase (HMBS) WB; IHC; ICC; IP.
Assay Kits SEE673Hu ELISA Kit for Hydroxymethylbilane Synthase (HMBS) Enzyme-linked immunosorbent assay for Antigen Detection.
SCE673Hu CLIA Kit for Hydroxymethylbilane Synthase (HMBS) Chemiluminescent immunoassay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Hydroxymethylbilane Synthase (HMBS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Hydroxymethylbilane Synthase (HMBS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Hydroxymethylbilane Synthase (HMBS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Hydroxymethylbilane Synthase (HMBS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Hydroxymethylbilane Synthase (HMBS) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Hydroxymethylbilane Synthase (HMBS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Hydroxymethylbilane Synthase (HMBS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Hydroxymethylbilane Synthase (HMBS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Hydroxymethylbilane Synthase (HMBS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Hydroxymethylbilane Synthase (HMBS) ELISA Kit Customized Service Offer
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  21. "Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria."Hum. Genet. 92:619-622(1993) [PubMed] [Europe PMC] [Abstract]
  22. "Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase."Hum. Mol. Genet. 2:1315-1316(1993) [PubMed] [Europe PMC] [Abstract]
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  33. "Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria."Hum. Genet. 102:541-548(1998) [PubMed] [Europe PMC] [Abstract]
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  35. "Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation."Am. J. Med. Genet. 86:366-375(1999) [PubMed] [Europe PMC] [Abstract]
  36. "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."Hum. Genet. 104:505-510(1999) [PubMed] [Europe PMC] [Abstract]
  37. "Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing acceptor site mutation (IVS8-1G>T)."Hum. Mutat. 14:355-355(1999) [PubMed] [Europe PMC] [Abstract]
  38. "New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria."Mol. Cell. Probes 13:443-447(1999) [PubMed] [Europe PMC] [Abstract]
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  41. "Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms."Hum. Genet. 107:150-159(2000) [PubMed] [Europe PMC] [Abstract]
  42. "Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria."Hum. Hered. 50:247-250(2000) [PubMed] [Europe PMC] [Abstract]
  43. "Identification and characterization of two novel mutations that produce acute intermittent porphyria: a 3-base deletion (841-843delGGA) and a missense mutation (T35M)."Hum. Mutat. 16:373-373(2000) [PubMed] [Europe PMC] [Abstract]
  44. ErratumHum. Genet. 109:241-241(2001)
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  46. "Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene."Clin. Genet. 62:288-297(2002) [PubMed] [Europe PMC] [Abstract]
  47. "Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria."Hum. Mutat. 19:310-310(2002) [PubMed] [Europe PMC] [Abstract]
  48. "Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias."Hum. Genet. 114:256-262(2004) [PubMed] [Europe PMC] [Abstract]
  49. "Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors."J. Inherit. Metab. Dis. 27:19-27(2004) [PubMed] [Europe PMC] [Abstract]
  50. "Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs."J. Inherit. Metab. Dis. 27:625-631(2004) [PubMed] [Europe PMC] [Abstract]