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Aldehyde Dehydrogenase 5 Family, Member A1 ELISA Kits (ALDH5A1)
On are 9 Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) ELISA Kits from 7 different suppliers available. Additionally we are shipping ALDH5A1 Antibodies (136) and ALDH5A1 Proteins (19) and many more products for this protein. A total of 177 ALDH5A1 products are currently listed.
6330403E24Rik, Ahd-1, Ahd1, D630032B01Rik, OTTMUSG00000000613, Ssadh, SSDH, Ssdh1
list all ELISA KIts Gene Name GeneID UniProt
ALDH5A1 7915 P51649
ALDH5A1 291133  
ALDH5A1 214579 Q8BWF0

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Human Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) interaction partners

  1. SSADH catalytic loop role in the SSADH redox-switch modulation

  2. The proband was found to have compound heterozygous mutations of the succinate-semialdehyde dehydrogenase (ALDH5A1) gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers.

  3. Two novel ALDH5A1 mutations likely responsible for SSADH deficiency were identified, and DNA sequencing provided an accurate diagnosis for an at-risk fetus whose sibling had SSADH deficiency. Current study and literature review identified nine additional novel mutations in eight unrelated families bringing the number of unique mutations of ALDH5A1 resulting in SSADH deficiency to 44, occurring from exon 1 to exon 10.

  4. Pearl (show AP3B1 ELISA Kits) et al. identify 3 new pathogenic mutations in the ALDH5A1 gene previously unreported in the literature. EXON: 1 Nucleotide change: c.412 C>T Change in protein: p.L138F EXON: 4 Nucleotide change: c.754G>T Change in protein: p.Q252X EXON: 8 Nucleotide change: c.1360G>A Change in protein: p.A454T

  5. Missense mutation in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.

  6. Results show that opioid-dependent patients carrying the T allele of a functional variant in ALDH5A1 had a greater risk of being nonresponders to methadone maintenance treatment

  7. The strongest association signal arose from an intronic region of the gene ALDH5A1, which encodes the mitochondrial enzyme succinic semialdehyde dehydrogenase (SSADH), an enzyme involved in gamma-aminobutyric acid metabolism.

  8. Missense mutations of c.527G>A and c.691G>A in the ALDH5A1 gene are associated with pathogenesis of succinic semialdehyde dehydrogenase deficiency.

  9. Succinic semialdehyde dehydrognase deficiency is caused by a mutation of the Aldh5a1-gene resulting in a dysfunction of the enzyme succinic semialdehyde dehydrogenase--{REVIEW}

  10. our study identified a novel homozygous ALDH5A1 gene mutation associated with SSADH deficiency.

Mouse (Murine) Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) interaction partners

  1. These data show that enhanced, rather than compromised, GABA(A) receptor-mediated inhibition occurs in cortico-thalamic networks of SSADH(-/-) mice.

  2. Normal SSADH activity in the Canavan disease (CD) mouse brain suggests that mental retardation and hypotonia seen in the CD mouse is not due to SSADH activity.

  3. murine succinate semialdehyde dehydrogenase has a role in regulating myelin expression

  4. Although our results suggest hippocampal and cortical dysfunction in Aldh5a1 (show ALDH4A1 ELISA Kits)(-/-) brain, we found no evidence that accumulating key metabolites of SSADH deficiency directly induce impairment of energy metabolism.

  5. SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex

ALDH5A1 Antigen Profile

Antigen Summary

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.

Alternative names and synonyms associated with ALDH5A1

  • aldehyde dehydrogenase 5 family, member A1 (ALDH5A1) Elisa Kit
  • aldehyde dehydrogenase 5 family, member A1 (aldh5a1) Elisa Kit
  • aldehyde dehydrogenase 5 family, member A1 (Aldh5a1) Elisa Kit
  • aldhehyde dehydrogenase family 5, subfamily A1 (Aldh5a1) Elisa Kit
  • 6330403E24Rik Elisa Kit
  • Ahd-1 Elisa Kit
  • Ahd1 Elisa Kit
  • D630032B01Rik Elisa Kit
  • OTTMUSG00000000613 Elisa Kit
  • Ssadh Elisa Kit
  • SSDH Elisa Kit
  • Ssdh1 Elisa Kit

Protein level used designations for ALDH5A1

NAD(+)-dependent succinic semialdehyde dehydrogenase , aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) , aldehyde dehydrogenase 5A1 , aldehyde dehydrogenase family 5 member A1 , succinate-semialdehyde dehydrogenase, mitochondrial , succinic semialdehyde dehydrogenase , aldehyde dehydrogenase 5 family, member A1 , mitochondrial succinate semialdehyde dehydrogenase , aldehyde dehydrogenase family 5, subfamily A1 , aldehyde dehydrogenase 1, mitochondrial

449515 Pan troglodytes
488246 Canis lupus familiaris
707902 Macaca mulatta
100216127 Xenopus (Silurana) tropicalis
532724 Bos taurus
100351836 Oryctolagus cuniculus
7915 Homo sapiens
291133 Rattus norvegicus
214579 Mus musculus
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