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Aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)
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| Identifiers | ||
| Symbol(s) | ALDH5A1; SSADH; SSDH | |
| External IDs | OMIM: 271980 MGI: 2441982 HomoloGene: 840 | |
| RNA expression pattern | ||
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| Orthologs | ||
| Human | Mouse | |
| Entrez | 7915 | 214579 |
| Ensembl | ENSG00000112294 | ENSMUSG00000035936 |
| Uniprot | P51649 | Q5SZW1 |
| 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. The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome The Mouse Genome Informatics (MGI website is run by The Jackson Laboratory. HomoloGene, a tool of the National Center for Biotechnology Information (NCBI is a system for automated detection of homologs (similarity attributable to descent The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent UniProt is the uni versal prot ein resource a central repository of Protein data created by combining Swiss-Prot, TrEMBL PubMed is a free search engine for accessing the MEDLINE database of citations and abstracts of biomedical research articles History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance [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]
References
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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. 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:. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 17457693.
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