Hydroxymethylbilane Synthase
"Hydroxymethylbilane Synthase" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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
Descriptor ID |
D011163
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MeSH Number(s) |
D08.811.913.225.575
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Concept/Terms |
Hydroxymethylbilane Synthase- Hydroxymethylbilane Synthase
- Synthase, Hydroxymethylbilane
- Porphobilinogen Ammonia-Lyase
- Ammonia-Lyase, Porphobilinogen
- Porphobilinogen Ammonia Lyase
- Porphobilinogen Deaminase
- Deaminase, Porphobilinogen
- Preuroporphyrinogen Synthetase
- Synthetase, Preuroporphyrinogen
- Uroporphyrinogen I Synthase
- Synthase, Uroporphyrinogen I
- Hydroxymethylbilane Synthetase
- Synthetase, Hydroxymethylbilane
- Pre-uroporphyrinogen Synthetase
- Pre uroporphyrinogen Synthetase
- Synthetase, Pre-uroporphyrinogen
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Below are MeSH descriptors whose meaning is more general than "Hydroxymethylbilane Synthase".
Below are MeSH descriptors whose meaning is more specific than "Hydroxymethylbilane Synthase".
This graph shows the total number of publications written about "Hydroxymethylbilane Synthase" by people in this website by year, and whether "Hydroxymethylbilane Synthase" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2018 | 2 | 0 | 2 |
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Below are the most recent publications written about "Hydroxymethylbilane Synthase" by people in Profiles.
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A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report. Medicine (Baltimore). 2018 Sep; 97(37):e12295.
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Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver. J Intern Med. 2018 07; 284(1):78-91.