This Antibody was verified by Relative expression to ensure that the antibody binds to the antigen stated. View Details
Immunogen sequence: EFSAIILATA GLQRMGWHNR VGQILHPEEC MYAVGQGALG VEVRAKDQDI LDLVGVLHDP ETLLRCIAER AFLRHLEGGC SVPVAVHTAM KDGQLYLTGG VWSLDGSDSI QETMQATIHV PAQHEDGPED DPQLV
Highest antigen sequence identity to the following orthologs: Mouse - 93%, Rat - 94%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: HEM3; HMBS; Hydroxymethylbilane synthase; PBG D; PBG-D; Porphobilinogen deaminase; porphyria, acute; Chester type; Pre-uroporphyrinogen synthase; uroporphyrinogen I synthase; uroporphyrinogen I synthetase
Gene Aliases: HMBS; PBG-D; PBGD; PORC; UPS
UniProt ID: (Human) P08397
Entrez Gene ID: (Human) 3145
Molecular Function: deaminase