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Background
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ALDH6A1 belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. This protein is a mitochondrial methylmalonate semialdehyde dehydrogenase, and 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.
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Background
References
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- Kuiper,H., Cytogenet. Genome Res. 109 (4), 533 (2005)
- Anderson,N.L., Mol. Cell Proteomics 3 (4), 311-326 (2004)
- Chambliss,K.L., J. Inherit. Metab. Dis. 23 (5), 497-504 (2000)
- Kedishvili,N.Y., J. Biol. Chem. 267 (27), 19724-19729 (1992)
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List Price (USA): $235.00/0.1mg
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