|Other Names||Porphobilinogen deaminase, PBG-D, Hydroxymethylbilane synthase, HMBS, Pre-uroporphyrinogen synthase, HMBS, PBGD, UPS|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps.|
|Tissue Location||Isoform 1 is ubiquitously expressed. Isoform 2 is found only in erythroid cells.|
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Provided below are standard protocols that you may find useful for product applications.
This gene encodes a member of the hydroxymethylbilanesynthase superfamily. The encoded protein is the third enzyme ofthe heme biosynthetic pathway and catalyzes the head to tailcondensation of four porphobilinogen molecules into the linearhydroxymethylbilane. Mutations in this gene are associated with theautosomal dominant disease acute intermittent porphyria.Alternatively spliced transcript variants encoding differentisoforms have been described.
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Surin, V.L., et al. Genetika 46(4):540-552(2010)Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009)Gill, R., et al. Biochem. J. 420(1):17-25(2009)Ulbrichova, D., et al. FEBS J. 276(7):2106-2115(2009)
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