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FIGURE: 1 / 1
Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
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.
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; unnamed protein product; uroporphyrinogen I synthase; uroporphyrinogen I synthetase
Gene Aliases: ENCEP; HMBS; LENCEP; PBG-D; PBGD; PORC; T25658; UPS; Uros1
UniProt ID: (Mouse) P22907
Entrez Gene ID: (Human) 3145, (Mouse) 15288
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