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- Aldehyde_dehydrogenase_5_family,_member_A1 abstract "Succinate-semialdehyde dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH5A1 gene.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.".
- Aldehyde_dehydrogenase_5_family,_member_A1 entrezgene "7915".
- Aldehyde_dehydrogenase_5_family,_member_A1 wikiPageID "14875805".
- Aldehyde_dehydrogenase_5_family,_member_A1 wikiPageRevisionID "590523982".
- Aldehyde_dehydrogenase_5_family,_member_A1 hasPhotoCollection Aldehyde_dehydrogenase_5_family,_member_A1.
- Aldehyde_dehydrogenase_5_family,_member_A1 requireManualInspection "no".
- Aldehyde_dehydrogenase_5_family,_member_A1 summaryText "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 . 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.".
- Aldehyde_dehydrogenase_5_family,_member_A1 updateCitations "yes".
- Aldehyde_dehydrogenase_5_family,_member_A1 updatePage "yes".
- Aldehyde_dehydrogenase_5_family,_member_A1 updateProteinBox "yes".
- Aldehyde_dehydrogenase_5_family,_member_A1 updateSummary "yes".
- Aldehyde_dehydrogenase_5_family,_member_A1 type Biomolecule.
- Aldehyde_dehydrogenase_5_family,_member_A1 type Protein.
- Aldehyde_dehydrogenase_5_family,_member_A1 type BiologicalObject.
- Aldehyde_dehydrogenase_5_family,_member_A1 comment "Succinate-semialdehyde dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH5A1 gene.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).".
- Aldehyde_dehydrogenase_5_family,_member_A1 label "Aldehyde dehydrogenase 5 family, member A1".
- Aldehyde_dehydrogenase_5_family,_member_A1 sameAs m.03g_wg9.
- Aldehyde_dehydrogenase_5_family,_member_A1 sameAs Q4713506.
- Aldehyde_dehydrogenase_5_family,_member_A1 sameAs Q4713506.
- Aldehyde_dehydrogenase_5_family,_member_A1 wasDerivedFrom Aldehyde_dehydrogenase_5_family,_member_A1?oldid=590523982.
- Aldehyde_dehydrogenase_5_family,_member_A1 isPrimaryTopicOf Aldehyde_dehydrogenase_5_family,_member_A1.