PBGD (porphobilinogen deaminase), also designated hydroxymethylbilane synthase, is a cytoplasmic enzyme found in the heme synthesis pathway. PBGD belongs to the HMBS (hydroxymethylbilane synthase) family. Deficiency of PBGD causes errors in pyrrole metabolism, which in turn leads to an inherited autosomal disorder called acute intermittent porphyria (AIP). AIP is characterized by acute attacks of neurological dysfunctions with hypertension, tachycardia, peripheral neurologic disturbances, abdominal pain and excessive amounts of aminolevulinic acid and porphobilinogen in the urine.
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Protein Aliases: HEM3; HMBS; Hydroxymethylbilane synthase; PBG D; PBG-D; PBGD; Porphobilinogen deaminase; porphyria, acute; Chester type; Pre uroporphyrinogen synthase; Pre-uroporphyrinogen synthase; UPS; Uroporphyrinogen I synthase; Uroporphyrinogen I synthetase
Gene Aliases: HMBS; PBG-D; PBGD; PORC; UPS
UniProt ID: (Human) P08397
Entrez Gene ID: (Human) 3145