Aldehyde dehydrogenase 5 family, member A1

Succinate-semialdehyde dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH5A1 gene.^[5][6][7]

ALDH5A1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2W8N, 2W8O, 2W8P, 2W8Q, 2W8R
Identifiers
Aliases	ALDH5A1, SSADH, SSDH, Aldehyde dehydrogenase 5 family, member A1, aldehyde dehydrogenase 5 family member A1
External IDs	OMIM: 610045; MGI: 2441982; HomoloGene: 840; GeneCards: ALDH5A1; OMA:ALDH5A1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p22.3 Start 24,494,867 bp[1] End 24,537,207 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 A3.1|13 10.77 cM Start 25,091,562 bp[2] End 25,121,644 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Skeletal muscle tissue of biceps brachii vastus lateralis muscle liver frontal pole postcentral gyrus Brodmann area 10 nucleus accumbens superior frontal gyrus Region I of hippocampus proper paraflocculus of cerebellum Top expressed in dorsal tegmental nucleus superior colliculus medial vestibular nucleus central gray substance of midbrain globus pallidus habenula lateral hypothalamus paraventricular nucleus of hypothalamus ventral tegmental area nucleus accumbens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity oxidoreductase activity succinate-semialdehyde dehydrogenase (NAD+) activity succinate-semialdehyde dehydrogenase [NAD(P)+ activity] NAD binding oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor Cellular component mitochondrial matrix mitochondrion Biological process gamma-aminobutyric acid catabolic process galactosylceramide metabolic process glutathione metabolic process gamma-aminobutyric acid metabolic process post-embryonic development short-chain fatty acid metabolic process neurotransmitter catabolic process glucosylceramide metabolic process succinate metabolic process central nervous system development glutamine metabolic process glucose metabolic process glutamate metabolic process glycerophospholipid metabolic process metabolism respiratory electron transport chain protein homotetramerization acetate metabolic process glutamate decarboxylation to succinate Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7915 214579 Ensembl ENSG00000112294 ENSMUSG00000035936 UniProt P51649 Q8BWF0 RefSeq (mRNA) NM_170740 NM_001080 NM_001368954 NM_172532 RefSeq (protein) NP_001071 NP_733936 NP_001355883 NP_766120 Location (UCSC) Chr 6: 24.49 – 24.54 Mb Chr 13: 25.09 – 25.12 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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 γ-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.^[7]