Products

Western Blot (Recombinant protein)

ELISA

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

ALDH18A1

Gene Alias

GSAS, MGC117316, P5CS, PYCS

Gene Description

aldehyde dehydrogenase 18 family, member A1

Omim ID

Gene Ontology

Gene Summary

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. [provided by RefSeq

Other Designations

OTTHUMP00000020159|OTTHUMP00000020160|delta1-pyrroline-5-carboxlate synthetase|glutamate gamma-semialdehyde synthetase|pyrroline-5-carboxlate synthetase|pyrroline-5-carboxylate synthetase|pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde sy