Recombinant Human ALDH18A1, His-tagged

• Cat.No.: ALDH18A1-9549H
• Product Overview: Recombinant Human ALDH18A1 protein, fused to His-tag, was expressed in E.coli and purified by Ni-sepharose.

Specification

• Description: This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene.
• Source: E.coli
• Species: Human
• Tag: His
• Protein length: 1-362a.a.
• 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 300mM Imidazole and 0.7% Sarcosyl, 15%glycerol.

Gene Information

• Gene Name: ALDH18A1 aldehyde dehydrogenase 18 family, member A1 [ Homo sapiens ]
• Official Symbol: ALDH18A1
• Synonyms: ALDH18A1; aldehyde dehydrogenase 18 family, member A1; GSAS, PYCS, pyrroline 5 carboxylate synthetase (glutamate gamma semialdehyde synthetase); delta-1-pyrroline-5-carboxylate synthase; P5CS; delta1-pyrroline-5-carboxlate synthetase; aldehyde dehydrogenase family 18 member A1; delta-1-pyrroline-5-carboxylate synthetase; pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase); GSAS; PYCS; ARCL3A; MGC117316
• Gene ID: 5832
• mRNA Refseq: NM_001017423
• Protein Refseq: NP_001017423
• MIM: 138250
• UniProt ID: P54886
• Chromosome Location: 10q24.3-q24.6
• Pathway: Amino acid synthesis and interconversion (transamination), organism-specific biosystem; Arginine and proline metabolism, organism-specific biosystem; Arginine and proline metabolism, conserved biosystem; Metabolic pathways, organism-specific biosystem; Metabolism, organism-specific biosystem; Metabolism of amino acids and derivatives, organism-specific biosystem; Proline biosynthesis, glutamate =>
• Function: ATP binding; glutamate 5-kinase activity; glutamate-5-semialdehyde dehydrogenase activity; kinase activity; nucleotide binding; oxidoreductase activity; transferase activity