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Vector Laboratories, Inc.
6737 Mowry Ave
Newark, CA 94560
United States
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ALDH6A1
aldehyde dehydrogenase 6 family, member A1
ALDH6A1 is 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.
| Gene Name: | aldehyde dehydrogenase 6 family, member A1 |
| Synonyms: | ALDH6A1, MMSDH, MMSADHA |
| Target Sequences: | NM_005589 NP_005580.1 Q02252 |
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