Recombinant Human HMBS Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: HMBS-6081H
• Product Overview: HMBS MS Standard C13 and N15-labeled recombinant protein (NP_001019553) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Species: Human
• Source: HEK293
• Tag: DDK&Myc
• 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.
• Molecular Mass: 37.5 kDa
• AA Sequence: MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAHTRTRPLEQKLISEEDLAANDILDYKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: HMBS hydroxymethylbilane synthase [ Homo sapiens (human) ]
• 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_001024382
• Protein Refseq: NP_001019553
• MIM: 609806
• UniProt ID: P08397