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Immunogen sequence: MSGNGNAAA TAEENSPKMR VIRVGTRKSQ LARIQTDSVV ATLKASYPGL QFEIIAMSTT GDKILDTALS KIGEKSLFTK ELEHALEKNE VDLVVHSLKD LPTVLPPGFT IGAICKRENP HDAVVFHPKF VGKTLETLPE KSVVGTSSLR RAAQLQRKFP HLEFRSIRGN LNTRLRKLDE QQEFSAIILA TAGLQRMGWH NRVGQILHPE ECMYAVGQGA LGVEVRAKDQ DILDLVGVLH DPETLLRCIA ERAFLRHLEG GCSVPVAVHT AMKDGQLYLT GGVWSLDGSD SIQETMQATI HVPAQHEDGP EDDPQLVGIT ARNIPRGPQL AAQNLGISLA NLLLSKGAKN ILDVARQLND AH (1-361 aa encoded by BC000520)
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: alternative name: porphobilinogen deaminase; 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: hemC; HMBS; PBG-D; PBGD; PORC; T25658; UPS; URO-S; Uros1
Molecular Function: deaminase