Recombinant Full Length Human HMBS Protein, GST-tagged

• Cat.No.: HMBS-3636HF
• Product Overview: Human HMBS full-length ORF ( AAH00520.1, 1 a.a. - 361 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Species: Human
• Source: In Vitro Cell Free System
• Tag: GST
• Protein Length: 361 amino acids
• 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. [provided by RefSeq
• Molecular Mass: 65.45 kDa
• AA Sequence: MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKIPDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH
• Applications: Enzyme-linked Immunoabsorbent Assay
  Western Blot (Recombinant protein)
  Antibody Production
  Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -8 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

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; uroporphyrinogen I synthase; pre-uroporphyrinogen synthase; uroporphyrinogen I synthetase; porphyria, acute; Chester type; UPS; PBGD; PORC; PBG-D
• Gene ID: 3145
• mRNA Refseq: NM_000190
• Protein Refseq: NP_000181
• MIM: 609806
• UniProt ID: P08397