Recombinant Human ALAS2, His-tagged

• Cat.No.: ALAS2-27277TH
• Product Overview: Recombinant fragment corresponding to amino acids 136-553 of Human ALAS2 with N terminal His tag, 46 kDa.

Specification

• Description: The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified.
• Conjugation: HIS
• Source: E. coli
• Form: Liquid
• Purity: >90% by SDS-PAGE
• Storage buffer: Preservative: NoneConstituents: 20% Glycerol, 0.05% Tween 20, 3mM DTT, 25mM Tris HCl, 100mM Sodium chloride, 20 μM pyridoxal 5 phosphate monohydrate pH 8.0
• Storage: Aliquot and store at -80°C. Avoid repeated freeze / thaw cycles.

Gene Information

• Gene Name: ALAS2 aminolevulinate, delta-, synthase 2 [ Homo sapiens ]
• Official Symbol: ALAS2
• Synonyms: ALAS2; aminolevulinate, delta-, synthase 2; aminolevulinate, delta , synthase 2 (sideroblastic/hypochromic anemia) , ASB; 5-aminolevulinate synthase, erythroid-specific, mitochondrial; sideroblastic/hypochromic anemia
• Gene ID: 212
• mRNA Refseq: NM_000032
• Protein Refseq: NP_000023
• MIM: 301300
• Uniprot ID: P22557
• Chromosome Location: Xp11.21
• Pathway: Glycine, serine and threonine metabolism, organism-specific biosystem; Glycine, serine and threonine metabolism, conserved biosystem; Heme Biosynthesis, organism-specific biosystem; Heme biosynthesis, organism-specific biosystem; Metabolic pathways, organism-specific biosystem
• Function: 5-aminolevulinate synthase activity; 5-aminolevulinate synthase activity; coenzyme binding; glycine binding; protein binding