ALDH6A1 FISH Probe

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 Details
SKU Test Kits Buffer Dye Color Order Now
ALDH6A1-20-RE 20 (40 μL) 200 μL color Request Pricing
ALDH6A1-20-OR 20 (40 μL) 200 μL color Request Pricing
ALDH6A1-20-GO 20 (40 μL) 200 μL color Request Pricing
ALDH6A1-20-GR 20 (40 μL) 200 μL color Request Pricing
ALDH6A1-20-AQ 20 (40 μL) 200 μL color Request Pricing

Gene Summary

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 Details

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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