ALDH5A1 (gene)

From Wikipedia, the free encyclopedia

Aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)

Identifiers

ALDH5A1; SSADH; SSDH

External IDs

OMIM: 271980 MGI: 2441982 HomoloGene: 840

Gene ontology
Molecular Function:	• succinate-semialdehyde dehydrogenase activity • oxidoreductase activity
Cellular Component:	• mitochondrion
Biological Process:	• electron transport • central nervous system development • metabolic process • gamma-aminobutyric acid metabolic process • gamma-aminobutyric acid catabolic process • dopamine metabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001080 (mRNA)
NP_001071 (protein)

NM_172532 (mRNA)
NP_766120 (protein)

Location

Chr 6: 24.6 - 24.65 Mb

Chr 13: 24.92 - 24.95 Mb

Pubmed search

[1]

[2]

Aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase), also known as ALDH5A1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase).

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.