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Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1)

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SSADH; SSDH; Succinate-Semialdehyde Dehydrogenase,Mitochondrial; NAD(+)-dependent succinic semialdehyde dehydrogenase

Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1)
CCC E835
HGNC 408
MGI 2441982
PubMed 11901270
RGD 621422
UniProt P51649
Wiki ALDH5A1
ALDH5A1 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 the human, genomic Southern blots indicated that the 2 SSADH transcripts are encoded by a single-copy gene more than 20 kb long. The mammalian SSADH bears significant homology to bacterial NADP(+)-SSADH and conserved regions of aldehyde dehydrogenases, suggesting that it is a member of the aldehyde dehydrogenase superfamily of proteins. SSADH deficiency had been diagnosed in approximately 350 patients.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) ELISA Kit Customized Service Offer
  1. "Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)."Am. J. Hum. Genet. 63:399-408(1998) [PubMed] [Europe PMC] [Abstract]
  2. "Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms."Mol. Genet. Metab. 76:348-362(2002) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and analysis of human chromosome 6." Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression."J. Biol. Chem. 270:461-467(1995) [PubMed] [Europe PMC] [Abstract]
  7. "Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization."Adv. Exp. Med. Biol. 414:253-260(1997) [PubMed] [Europe PMC] [Abstract]
  8. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  9. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  10. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  11. "Redox-switch modulation of human SSADH by dynamic catalytic loop."EMBO J. 28:959-968(2009) [PubMed] [Europe PMC] [Abstract]
  12. "Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses."Mol. Genet. Metab. 72:218-222(2001) [PubMed] [Europe PMC] [Abstract]
  13. "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. 53:42-44(2002) [PubMed] [Europe PMC] [Abstract]
  14. "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. 22:442-450(2003) [PubMed] [Europe PMC] [Abstract]