rs72725924

This variant is located in the ALDH6A1 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Methylmalonate semialdehyde dehydrogenase deficiency; not provided

About ALDH6A1

This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

View all ALDH6A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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