Recombinant Human Porphobilinogen deaminase (HMBS)

Uniprot Id

P08397

Target Species

Human

Target Name

HMBS

Target Full Name

Porphobilinogen deaminase

Target Function

As part of the heme biosynthetic pathway, catalyzes the sequential polymerization of four molecules of porphobilinogen to form hydroxymethylbilane, also known as preuroporphyrinogen. 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. In the last step of catalysis, the product, preuroporphyrinogen, is released, leaving the cofactor bound to the holodeaminase intact.

Target Involvement

Acute intermittent porphyria (AIP)

Target Subcellular Location

Cytoplasm.

Target Protein Families

HMBS family

Target Tissue Specificity

[Isoform 1]: Is ubiquitously expressed.; [Isoform 2]: Is found only in erythroid cells.

Target Synonyms

HEM3_HUMAN; HMBS; Hydroxymethylbilane synthase; PBG D; PBG-D; PBGD; PORC; Porphobilinogen deaminase; porphyria, acute, Chester type; Pre uroporphyrinogen synthase; Pre-uroporphyrinogen synthase; UPS; Uroporphyrinogen I synthase; Uroporphyrinogen I synthetase

Target Background

This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described.