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Aldehyde dehydrogenase 5 family, member A1

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ALDH5A1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesALDH5A1, SSADH, SSDH, Aldehyde dehydrogenase 5 family, member A1, aldehyde dehydrogenase 5 family member A1
External IDsOMIM: 610045; MGI: 2441982; HomoloGene: 840; GeneCards: ALDH5A1; OMA:ALDH5A1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 13: 25.09 – 25.12 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

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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]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000112294Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035936Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Chambliss KL, Caudle DL, Hinson DD, Moomaw CR, Slaughter CA, Jakobs C, Gibson KM (Jan 1995). "Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression". The Journal of Biological Chemistry. 270 (1): 461–7. doi:10.1074/jbc.270.1.461. PMID 7814412.
  6. ^ Trettel F, Malaspina P, Jodice C, Novelletto A, Slaughter CA, Caudle DL, Hinson DD, Chambliss KL, Gibson KM (May 1997). "Human Succinic Semialdehyde Dehydrogenase". Enzymology and Molecular Biology of Carbonyl Metabolism 6. Advances in Experimental Medicine and Biology. Vol. 414. pp. 253–60. doi:10.1007/978-1-4615-5871-2_29. ISBN 978-1-4613-7692-7. PMID 9059628.
  7. ^ a b "Entrez Gene: ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)".
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Further reading

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