|
1 / 1
|
DeCS
|
|
 |
|
Descriptor English:
|
|
Hydroxymethylbilane Synthase
|
|
Descriptor Spanish:
|
|
Sintasa Hidroximetilbilano
|
|
Descriptor Portuguese:
|
|
Hidroximetilbilano Sintase
|
|
Synonyms English:
|
|
Porphobilinogen Ammonia-Lyase
Uroporphyrinogen I Synthase
Porphobilinogen Deaminase
|
|
Tree Number:
|
|
D08.811.913.225.575
|
|
Definition English:
|
|
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 Combination - descr/qualif English:
|
|
Hydroxymethylbilane Synthase/deficiency use Porphyria, Acute Intermittent
|
|
See Related English:
|
|
Porphyrias
|
|
History Note English:
|
|
98(75)
|
|
Allowable Qualifiers English:
|
|
|
|
Record Number:
|
|
11605
|
|
Unique Identifier:
|
|
D011163
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS SciELO LILACS LIS
|