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DeCS
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Descriptor English:
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Hydroxymethylbilane Synthase
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Descriptor Spanish:
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Hidroximetilbilano Sintasa
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Descriptor Portuguese:
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Hidroximetilbilano Sintase
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Synonyms English:
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Porphobilinogen Ammonia-Lyase
Uroporphyrinogen I Synthase
Porphobilinogen Deaminase
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Tree Number:
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D08.811.913.225.575
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Definition English:
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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 |
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Entry Combination - descr/qualif English:
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Hydroxymethylbilane Synthase/deficiency use Porphyria, Acute Intermittent
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See Related English:
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Porphyrias
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History Note English:
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98(75)
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Allowable Qualifiers English:
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Record Number:
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11605
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Unique Identifier:
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D011163
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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