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

Reviews

01/15/2022

Its speed in modulating signaling pathways allowed us to obtain results quickly, saving valuable time.

03/14/2017

The product's ability to accelerate research progress made it invaluable for time-critical projects.

10/02/2016

Time-sensitive assays were notably improved by the swift effects of the product.

Q&As

What is the primary function of ALDH18A1?

ALDH18A1 encodes delta-1-pyrroline-5-carboxylate synthetase, an enzyme involved in proline biosynthesis.

Is ALDH18A1 associated with amino acid metabolism?

Yes, ALDH18A1 is associated with amino acid metabolism, specifically in the synthesis of the amino acid proline.

How does ALDH18A1 contribute to cellular homeostasis?

ALDH18A1 contributes to cellular homeostasis by regulating the production of proline, an amino acid with various cellular functions.

Are there diseases associated with ALDH18A1 dysfunction?

Mutations in ALDH18A1 can lead to a rare genetic disorder called type I hyperprolinemia, characterized by elevated levels of proline in the blood.

In what cellular processes does ALDH18A1 play a role?

ALDH18A1 participates in the conversion of glutamate to pyrroline-5-carboxylate, a crucial step in proline biosynthesis.

Can ALDH18A1 be targeted for therapeutic interventions?

Therapeutic interventions targeting ALDH18A1 may be explored for conditions related to proline metabolism, but this would require careful consideration due to the essential role of proline in various cellular processes.

What is the subcellular location of ALDH18A1?

ALDH18A1 is typically located in the mitochondria, where it carries out the biosynthesis of proline.