ALDH5A1 (gene)

Aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase), also known as ALDH5A1, is a human gene.cite web | title = Entrez Gene: ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7915| accessdate = ]

PBB_Summary
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summary_text = 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.cite web | title = Entrez Gene: ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7915| accessdate = ]

References

Further reading

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

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