rs771292407

This variant is located in the ALDH18A1 gene.

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ClinVar annotation

Likely Benign★★★☆

2 submitters1 publication

not provided; Cutis laxa, autosomal dominant 3;Autosomal dominant spastic paraplegia type 9;de Barsy syndrome

About 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]

View all ALDH18A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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