Specifications
Species Reactivity
Mouse; Human
Immunogen
Synthetic peptide: C-SEHGSLKYLH, corresponding to C terminal amino acids 775-784 of Human P5CS (NP_002851.2).
Applications
Application Notes
WB: 1 - 3μg/ml;
Target
Alternative Names
ALDH18A1; aldehyde dehydrogenase 18 family, member A1; GSAS; P5CS; PYCS; ARCL3A; delta-1-pyrroline-5-carboxylate synthase; delta1-pyrroline-5-carboxlate synthetase; aldehyde dehydrogenase family 18 member A1; delta-1-pyrroline-5-carboxylate synthetase; py
Product Background
Antigen 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.
Pathway
Amino acid synthesis and interconversion (transamination); Arginine and proline metabolism; Biosynthesis of amino acids; Metabolism of amino acids and derivatives
Citations
Publication ()
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