ALDH18A1

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]

Description

aldehyde dehydrogenase 18 family, member A1

Protein family

Enzymes

Chromosome

10:q24.1 (97365696 - 97416463)

Ensembl ID

ENSG00000059573  (ver. 69.37)

Orthologs

Mouse Aldh18a1: ENSMUSG00000025007

Human splice variants
Mouse splice variants