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ProteinQ415227· pop 13· linked from 138 articles

hydroxymethylbilane synthase

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Also known as uroporphyrinogen I synthase, porphyria, acute; Chester type, porphobilinogen deaminase, pre-uroporphyrinogen synthase, uroporphyrinogen I synthetase, HMBS

mammalian protein found in Homo sapiens

Protein · UniProt

Porphobilinogen deaminase

Gene
HMBS
Organism
Homo sapiens (Human)
Length
361 aa
Molecular mass
39,330 Da
Evidence
1: Evidence at protein level

As part of the heme biosynthetic pathway, catalyzes the sequential polymerization of four molecules of porphobilinogen to form hydroxymethylbilane, also known as preuroporphyrinogen (PubMed:18004775, PubMed:18936296, PubMed:19138865, PubMed:23815679). Catalysis begins with the assembly of the dipyrromethane cofactor by the apoenzyme from two molecules of porphobilinogen or from preuroporphyrinogen. The covalently linked cofactor acts as a primer, around which the tetrapyrrole product is assembled (PubMed:18936296). In the last step of catalysis, the product, preuroporphyrinogen, is released…

3D-structureAcetylationAlternative splicingCytoplasmDirect protein sequencingDisease variantHeme biosynthesisPhosphoprotein
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Swiss-Prot (reviewed) · via UniProt

Clinical Trials

1 registered

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