Recombinant Full Length Human HMBS Protein

• Cat.No.: HMBS-237HF
• Product Overview: Recombinant full length Human HMBS with a proprietary N terminal tag. Predicted MW 65.82kDa

Specification

• Description: This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described.
• Source: In Vitro Cell Free System
• Species: Human
• Form: Liquid
• Molecular Mass: 65.820kDa inclusive of tags
• Protein length: 361 amino acids
• AA Sequence: MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVA TLKASYPGLQFEIIAMSTTGDKIPDTALSKIGEKSLFTKE LEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPH DAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPH LEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHN RVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHD PETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTG GVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITA RNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDA H
• Purity: Proprietary Purification
• Storage: Shipped on dry ice. Upon delivery aliquot and store at -80 centigrade. Avoid freeze / thaw cycles.
• Storage Buffer: pH: 8.00. Constituents:0.79% Tris HCl, 0.31% Glutathione.

Gene Information

• Gene Name: HMBS hydroxymethylbilane synthase [ Homo sapiens ]
• Official Symbol: HMBS
• Synonyms: HMBS; hydroxymethylbilane synthase; PBGD, PORC, porphobilinogen deaminase , porphyria, acute; Chester type , UPS, uroporphyrinogen I synthase; porphobilinogen deaminase
• Gene ID: 3145
• mRNA Refseq: NM_000190
• Protein Refseq: NP_000181
• MIM: 609806
• UniProt ID: P08397