Recombinant Human HMBS

• Cat.No.: HMBS-29326TH
• 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.
• Protein length: 361 amino acids
• Molecular Weight: 65.820kDa inclusive of tags
• Source: Wheat germ
• Tissue specificity: Isoform 1 is ubiquitously expressed. Isoform 2 is found only in erythroid cells.
• Form: Liquid
• Purity: Proprietary Purification
• Storage buffer: pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl
• Storage: Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
• Sequences of amino acids: MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVA TLKASYPGLQFEIIAMSTTGDKIPDTALSKIGEKSLFTKE LEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPH DAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPH LEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHN RVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHD PETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTG GVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITA RNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDA H
• Sequence Similarities: Belongs to the HMBS family.

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
• Chromosome Location: 11q23.2-qter
• Pathway: Heme Biosynthesis, organism-specific biosystem; Heme biosynthesis, organism-specific biosystem; Metabolic pathways, organism-specific biosystem; Metabolism, organism-specific biosystem; Metabolism of porphyrins, organism-specific biosystem
• Function: hydroxymethylbilane synthase activity; hydroxymethylbilane synthase activity; transferase activity