ALDH5A1 (gene)

Aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)
Identifiers
Symbols	ALDH5A1 ; SSADH; SSDH
External IDs	Template:OMIM5 Template:MGI HomoloGene: 840
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase), also known as ALDH5A1, is a human 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.

Further reading

• Hearl WG, Churchich JE (1984). "Interactions between 4-aminobutyrate aminotransferase and succinic semialdehyde dehydrogenase, two mitochondrial enzymes". J. Biol. Chem. 259 (18): 11459–63. PMID 6470007.
• Chambliss KL, Caudle DL, Hinson DD; et al. (1995). "Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression". J. Biol. Chem. 270 (1): 461–7. PMID 7814412.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Trettel F, Malaspina P, Jodice C; et al. (1997). "Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization". Adv. Exp. Med. Biol. 414: 253–60. PMID 9059628.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chambliss KL, Hinson DD, Trettel F; et al. (1998). "Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)". Am. J. Hum. Genet. 63 (2): 399–408. PMID 9683595.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hogema BM, Akaboshi S, Taylor M; et al. (2001). "Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses". Mol. Genet. Metab. 72 (3): 218–22. doi:10.1006/mgme.2000.3145. PMID 11243727.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Aoshima T, Kajita M, Sekido Y; et al. (2002). "Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene". Hum. Hered. 53 (1): 42–4. PMID 11901270.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Blasi P, Boyl PP, Ledda M; et al. (2003). "Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms". Mol. Genet. Metab. 76 (4): 348–62. PMID 12208142.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Novikov VD, Valova TA, Iasakova NT, Belan IB (2003). "[Morphological and functional characteristics of lymphocytes of mothers of children with Down syndrome]". Morfologiia. 118 (4): 74–80. PMID 12629812.CS1 maint: Multiple names: authors list (link)
• Mungall AJ, Palmer SA, Sims SK; et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Akaboshi S, Hogema BM, Novelletto A; et al. (2004). "Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency". Hum. Mutat. 22 (6): 442–50. doi:10.1002/humu.10288. PMID 14635103.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Plomin R, Turic DM, Hill L; et al. (2005). "A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability". Mol. Psychiatry. 9 (6): 582–6. doi:10.1038/sj.mp.4001441. PMID 14981524.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kang JH, Park YB, Huh TL; et al. (2006). "High-level expression and characterization of the recombinant enzyme, and tissue distribution of human succinic semialdehyde dehydrogenase". Protein Expr. Purif. 44 (1): 16–22. doi:10.1016/j.pep.2005.03.019. PMID 16199352.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Blasi P, Palmerio F, Aiello A; et al. (2006). "SSADH variation in primates: intra- and interspecific data on a gene with a potential role in human cognitive functions". J. Mol. Evol. 63 (1): 54–68. doi:10.1007/s00239-005-0154-8. PMID 16786440.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Knerr I, Pearl PL, Bottiglieri T; et al. (2007). "Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology". J. Inherit. Metab. Dis. 30 (3): 279–94. doi:10.1007/s10545-007-0574-2. PMID 17457693.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)