| Entrez gene ID | | 5832 |
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| Official gene symbol | | ALDH18A1 |
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| Full name | | aldehyde dehydrogenase 18 family, member A1 |
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| Aliases | | ,GSAS,MGC117316,P5CS,PYCS, |
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| 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] |
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| Location | | Chromosome: 10 Locus: 10q24.3 |
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| Gene position | | 97416567 - 97365686 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 50882 bp |
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| Gene sequence |
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| OMIM ID | | 138250 |
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