Recombinant Human Succinate-semialdehyde dehydrogenase, mitochondrial (ALDH5A1)

Uniprot Id

P51649

Target Species

Human

Target Name

ALDH5A1

Target Full Name

Succinate-semialdehyde dehydrogenase, mitochondrial

Target Function

Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).

Target Involvement

Succinic semialdehyde dehydrogenase deficiency (SSADHD)

Target Subcellular Location

Mitochondrion.

Target Protein Families

Aldehyde dehydrogenase family

Target Tissue Specificity

Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.

Target Research Area

Metabolism

Target Synonyms

Aldedehyde dehydrogenase 5 family; Aldehyde dehydrogenase 5 family member A1; Aldehyde dehydrogenase 5A1; Aldehyde dehydrogenase family 5 member A1; ALDH5A 1; Aldh5a1; mitochondrial; Mitochondrial succinate semialdehyde dehydrogenase; NAD(+) dependent succinic semialdehyde dehydrogenase; NAD(+)-dependent succinic semialdehyde dehydrogenase; SSADH; SSDH; SSDH_HUMAN; Succinate semialdehyde dehydrogenase; Succinate-semialdehyde dehydrogenase

Target Background

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.