Preferred Label : hydroxymethylbilane synthase;
MeSH 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;
MeSH synonym : porphobilinogen ammonia-lyase; porphobilinogen deaminase; uroporphyrinogen i synthase; hydroxymethylbilane synthetase; pre-uroporphyrinogen synthetase; synthetase, pre-uroporphyrinogen; pre uroporphyrinogen synthetase; ammonia-lyase, porphobilinogen; synthase, uroporphyrinogen i; synthase, hydroxymethylbilane; porphobilinogen ammonia lyase; deaminase, porphobilinogen; synthetase, hydroxymethylbilane; synthetase, preuroporphyrinogen; preuroporphyrinogen synthetase;
MeSH CAS label : porphobilinogen ammonia-lyase (polymerizing);
MeSH Related Number : 9036-47-9 (CAS RN);
Registry Number MeSH : EC 2.5.1.61;
Wikipedia link : https://en.wikipedia.org/wiki/Hydroxymethylbilane synthase;
Is substance : O;
UNII : EC 2.5.1.61;
Origin ID : D011163;
UMLS CUI : C0032706;
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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