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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ALDH6A1-20-RE | 20 (40 μL) | 200 μL |  |
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| ALDH6A1-20-OR | 20 (40 μL) | 200 μL |  |
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| ALDH6A1-20-GO | 20 (40 μL) | 200 μL |  |
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| ALDH6A1-20-GR | 20 (40 μL) | 200 μL |  |
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| ALDH6A1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : ALDH6A1
Gene Name : Aldehyde dehydrogenase 6 family member A1
Chromosome : CHR 14: 740,844,92-740,576,61
Locus : 14q24.3
Alt. Genes : FEM1B
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