ALDH5A1 Back

aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)

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NCBI Description of ALDH5A1
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.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

ALDH5A1 is highly significantly mutated in
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ALDH5A1 is significantly mutated in
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ALDH5A1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for ALDH5A1