Browse our ALDH5A1 Proteins (ALDH5A1)

Full name:
Aldehyde Dehydrogenase 5 Family, Member A1 Proteins (ALDH5A1)
On are 19 Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) Proteins from 6 different suppliers available. Additionally we are shipping ALDH5A1 Antibodies (132) and ALDH5A1 Kits (8) and many more products for this protein. A total of 172 ALDH5A1 products are currently listed.
6330403E24Rik, Ahd-1, Ahd1, D630032B01Rik, OTTMUSG00000000613, Ssadh, SSDH, Ssdh1
list all proteins Gene Name GeneID UniProt
ALDH5A1 7915 P51649
ALDH5A1 291133  
ALDH5A1 214579 Q8BWF0

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ALDH5A1 Proteins (ALDH5A1) by Origin

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Top referenced ALDH5A1 Proteins

  1. Human ALDH5A1 Protein expressed in Escherichia coli (E. coli) - ABIN667218 : Akaboshi, Hogema, Novelletto, Malaspina, Salomons, Maropoulos, Jakobs, Grompe, Gibson: Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. in Human mutation 2003 (PubMed)
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More Proteins for ALDH5A1 Interaction Partners

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

  1. 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.

  2. 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.

  3. Pearl (show AP3B1 Proteins) 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

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

  5. 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

  6. 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.

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

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

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

  10. Study seeks to determine whether cerebellar abnormalities are present in human succinic semialdehyde dehydrogenase deficiency on volumetric MRI (show C7ORF49 Proteins), compared with radiographic and histologic studies in the mouse model.

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 Proteins)(-/-) 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 Protein Profile

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

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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