Aliases for ALDH18A1 Gene
External Ids for ALDH18A1 Gene
Previous HGNC Symbols for ALDH18A1 Gene
Previous GeneCards Identifiers for ALDH18A1 Gene
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, Jul 2008]
GeneCards Summary for ALDH18A1 Gene
ALDH18A1 (Aldehyde Dehydrogenase 18 Family, Member A1) is a Protein Coding gene. Diseases associated with ALDH18A1 include cutis laxa, autosomal recessive, type iiia and aldh18a1-related cutis laxa. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include glutamate 5-kinase activity and glutamate-5-semialdehyde dehydrogenase activity.
UniProtKB/Swiss-Prot for ALDH18A1 Gene
Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.