This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ALDH5A1-20-RE | 20 (40 μL) | 200 μL |  |
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| ALDH5A1-20-OR | 20 (40 μL) | 200 μL |  |
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| ALDH5A1-20-GO | 20 (40 μL) | 200 μL |  |
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| ALDH5A1-20-GR | 20 (40 μL) | 200 μL |  |
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| ALDH5A1-20-AQ | 20 (40 μL) | 200 μL |  |
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This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Symbol : ALDH5A1
Gene Name : Aldehyde dehydrogenase 5 family member A1
Chromosome : CHR 6: 244,949,68-245,372,06
Locus : 6p22.3
Alt. Genes : LRPPRC
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