Immunogen sequence: MSGNGNAAAT AEENSPKMRV IRVGTRKSQL ARIQTDSVVA TLKASYPGLQ FEIIAMSTTG DKILDTALSK IGEKSLFTKE LEHALEKNEV DLVVHSLKDL PTVLPPGFTI GAICKRENPH DAVVFHPKFV GKTLETLPEK SVVGTSSLRR AAQLQRKFPH LEFRSIRGNL NTRLRKLDEQ QEFSAIILAT AGLQRMGWHN RVGQILHPEE CMYAVGQGAL GVEVRAKDQD ILDLVGVLHD PETLLRCIAE RAFLRHLEGG CSVPVAVHTA MKDGQLYLTG GVWSLDGSDS IQETMQATIH VPAQHEDGPE DDPQLVGITA RNIPRGPQLA AQNLGISLAN LLLSKGAKNI LDVARQLNDA H; Positive Samples: HeLa, Raji, Mouse spleen; Cellular Location: Cytoplasm
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: HMBS; Hydroxymethylbilane synthase; PBG-D; Porphobilinogen deaminase; porphyria, acute; Chester type; Pre-uroporphyrinogen synthase; uroporphyrinogen I synthase; uroporphyrinogen I synthetase
Gene Aliases: HMBS; PBG-D; PBGD; PORC; T25658; UPS; Uros1