Recombinant Human HMBS, GST-tagged

• Cat.No.: HMBS-13835H
• Product Overview: Recombinant Human HMBS protein, fused to GST-tag, was expressed in E.coli and purified by GSH-sepharose.

Specification

• Species: Human
• Source: E.coli
• Tag: GST
• Protein Length: 1-361a.a.
• 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.
• Storage: The protein is stored in PBS buffer at -20℃. Avoid repeated freezing and thawing cycles.
• Storage Buffer: 1M PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH8. ) added with 100mM GSH and 1% Triton X-100,15%glycerol.

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
• 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; Porphyrin and chlorophyll metabolism, organism-specific biosystem; Porphyrin and chlorophyll metabolism, conserved biosystem
• Function: amine binding; carboxylic acid binding; coenzyme binding; hydroxymethylbilane synthase activity; hydroxymethylbilane synthase activity; transferase activity; uroporphyrinogen-III synthase activity