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Concept information

Preferred term

Hydroxymethylbilane Synthase  

Type

  • mesh:Descriptor

Definition

  • An enzyme that catalyzes the tetrapolymerization of the monopyrrole PORPHOBILINOGEN into the hydroxymethylbilane preuroporphyrinogen (UROPORPHYRINOGENS) in several discrete steps. It is the third enzyme in the 8-enzyme biosynthetic pathway of HEME. In humans, deficiency in this enzyme encoded by HMBS (or PBGD) gene results in a form of neurological porphyria (PORPHYRIA, ACUTE INTERMITTENT). This enzyme was formerly listed as EC 4.3.1.8

Entry terms

  • 9036-47-9 (CAS RN)
  • Hydroxymethylbilane Synthetase
  • Porphobilinogen Ammonia-Lyase
  • Porphobilinogen ammonia-lyase (polymerizing)
  • Porphobilinogen Deaminase
  • Pre-uroporphyrinogen Synthetase
  • Preuroporphyrinogen Synthetase
  • Uroporphyrinogen I Synthase

In other languages

  • French

  • 9036-47-9 (CAS RN)
  • Porphobilinogen ammonia-lyase (polymerizing)
  • Porphobilinogen ammonia-lyase(polymerizing)
  • Porphobilinogène ammonium-lyase(polymérisante)
  • Porphobilinogène désaminase
  • Pré-uroporphyrinogène synthase

URI

http://data.loterre.fr/ark:/67375/JVR-H15QXDJL-L

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