Concept information
Preferred term
Hydroxymethylbilane Synthase
Type
-
Topical Descriptor
Broader concept
Entry terms
- Ammonia-Lyase, Porphobilinogen
- Deaminase, Porphobilinogen
- Hydroxymethylbilane Synthetase
- Porphobilinogen Ammonia Lyase
- Porphobilinogen Ammonia-Lyase
- Porphobilinogen Deaminase
- Pre uroporphyrinogen Synthetase
- Pre-uroporphyrinogen Synthetase
- Preuroporphyrinogen Synthetase
- Synthase, Uroporphyrinogen I
- Synthetase, Hydroxymethylbilane
- Synthetase, Pre-uroporphyrinogen
- Synthetase, Preuroporphyrinogen
- Uroporphyrinogen I Synthase
Scope note
- 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
History note
- 98(75)
In other languages
-
Finnish
-
Swedish
URI
http://www.yso.fi/onto/mesh/D011163
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