|Application ||WB, E|
|Other Accession||NP_000181.2, NP_001019553.1, NP_001245137.1, NP_001245138.1|
|Calculated MW||39330 Da|
|Other Names||HMBS; hydroxymethylbilane synthase; PBG-D; PBGD; PORC; UPS; porphobilinogen deaminase; porphyria, acute; Chester type; pre-uroporphyrinogen synthase; uroporphyrinogen I synthase; uroporphyrinogen I synthetase|
|Format||Supplied at 0.5 mg/ml in Tris saline, 0.02% sodium azide, pH7.3 with 0.5% bovine serum albumin. Aliquot and store at -20°C. Minimize freezing and thawing.|
|Immunogen||Peptide with sequence C-HLEFRSIRGNLNTR, from the internal region of the protein sequence according to NP_000181.2; NP_001019553.1; NP_001245137.1; NP_001245138.1.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||Goat Anti-HMBS Antibody (internal region) is for research use only and 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.
Seven novel genetic mutations within the 5'UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria. Brancaleoni V, Granata F, Colancecco A, Tavazzi D, Cappellini MD, Di Pierro E. Blood cells, molecules & diseases 49 (3-4): 147-51.
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