HMBS, 1-361aa, Human, His tag, E.coli

Porphobilinogen deaminase, also known as HMBS, is a member of the hydroxymethylbilane synthase superfamily. It is a cytoplasmic enzyme found in the heme synthesis pathway. Deficiency of HMBS causes errors in pyrrole metabolism which in turn leads to an inherited autosomal disorder called acute intermittent porphyria (AIP) which 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.