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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.
Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Hepatocytes)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (Daudi, U-698)

Interaction

Homotetramer.

Molecular function

Oxidoreductase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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