Profil protéine

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.

Alternative names and synonyms associated with ALDH5A1

• aldehyde dehydrogenase 5 family member A1 (ALDH5A1) anticorps
• aldehyde dehydrogenase 5 family member A1 (aldh5a1) anticorps
• aldehyde dehydrogenase 5 family, member A1 (Aldh5a1) anticorps
• aldhehyde dehydrogenase family 5, subfamily A1 (Aldh5a1) anticorps

• 6330403E24Rik anticorps
• Ahd-1 anticorps
• Ahd1 anticorps
• D630032B01Rik anticorps
• OTTMUSG00000000613 anticorps
• Afficher tous les alias de synonymes
• Ssadh anticorps
• SSDH anticorps
• Ssdh1 anticorps

Protein level used designations for ALDH5A1

NAD(+)-dependent succinic semialdehyde dehydrogenase , aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) , aldehyde dehydrogenase 5A1 , aldehyde dehydrogenase family 5 member A1 , succinate-semialdehyde dehydrogenase, mitochondrial , succinic semialdehyde dehydrogenase , aldehyde dehydrogenase 5 family, member A1 , mitochondrial succinate semialdehyde dehydrogenase , aldehyde dehydrogenase family 5, subfamily A1 , aldehyde dehydrogenase 1, mitochondrial