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Background
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ALDH5A1 belongs to the aldehyde dehydrogenase family of proteins. This protein functions as 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.
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Background
References
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- Knerr,I., J. Inherit. Metab. Dis. 30 (3), 279-294 (2007)
- Blasi,P., J. Mol. Evol. 63 (1), 54-68 (2006)
- Plomin,R., Mol. Psychiatry 9 (6), 582-586 (2004)
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Order Information
List Price (USA): $235.00/0.1mg
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