Aperçu des produits pour anti-ALDH5A1 (ALDH5A1) Anticorps

Full name:: anti-Aldehyde Dehydrogenase 5 Family, Member A1 Anticorps (ALDH5A1)

Chez www.anticorps-enligne.fr sont 145 Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) Anticorps de 21 de différents fournisseurs disponibles. De plus, nous expédions ALDH5A1 Kits (12) et ALDH5A1 Protéines (11) et beaucoup plus de produits pour cette protéine. Un total de 181 ALDH5A1 produits sont actuellement listés.

Synonymes:: 6330403E24Rik, Ahd-1, Ahd1, D630032B01Rik, OTTMUSG00000000613, Ssadh, SSDH, Ssdh1

afficher tous les anticorps	Gène	GeneID	UniProt
	ALDH5A1	7915	P51649
	ALDH5A1	291133
	ALDH5A1	214579	Q8BWF0
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Pathways pertinentes pour anti-ALDH5A1 Anticorps

Monocarboxylic Acid Catabolic Process

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anti-ALDH5A1 Anticorps mieux référencés

Human Polyclonal ALDH5A1 Primary Antibody pour ELISA, IHC - ABIN4279270 : Joslyn, Ravindranathan, Brush, Schuckit, White: Human variation in alcohol response is influenced by variation in neuronal signaling genes. dans Alcoholism, clinical and experimental research 2010 (PubMed)
Human Polyclonal ALDH5A1 Primary Antibody pour ICC, IF - ABIN4279272 : Ippolito, Piwnica-Worms: A fluorescence-coupled assay for gamma aminobutyric acid (GABA) reveals metabolic stress-induced modulation of GABA content in neuroendocrine cancer. dans PLoS ONE 2014 (PubMed)

Plus d’anticorps contre ALDH5A1 partenaires d’interaction

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

By ALDH5A1 gene expression in transiently transfected HEK293 cells and enzyme activity assays, we demonstrate that the p.V500 L mutation, despite being conservative, produces complete loss of enzyme activity
ALDH5A1 mRNA expression was down-regulated in ovarian cancer patients compared with that in normal tissues.
SSADH catalytic loop role in the SSADH redox-switch modulation
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.
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.
Pearl (Montrer AP3B1 Anticorps) 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
Missense mutation in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.
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
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.
Missense mutations of c.527G>A and c.691G>A in the ALDH5A1 gene are associated with pathogenesis of succinic semialdehyde dehydrogenase deficiency.

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

These data show that enhanced, rather than compromised, GABA(A) receptor-mediated inhibition occurs in cortico-thalamic networks of SSADH(-/-) mice.
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.
murine succinate semialdehyde dehydrogenase has a role in regulating myelin expression
Although our results suggest hippocampal and cortical dysfunction in Aldh5a1 (Montrer ALDH4A1 Anticorps)(-/-) brain, we found no evidence that accumulating key metabolites of SSADH deficiency directly induce impairment of energy metabolism.
SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex

ALDH5A1 profil antigène

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) anticorps
aldehyde dehydrogenase 5 family member A1 (aldh5a1) anticorps
aldehyde dehydrogenase 5 family, member A1 (Aldh5a1) anticorps
aldhehyde dehydrogenase family 5, subfamily A1 (Aldh5a1) anticorps

6330403E24Rik anticorps
Ahd-1 anticorps
Ahd1 anticorps
D630032B01Rik anticorps
OTTMUSG00000000613 anticorps
Ssadh anticorps
SSDH anticorps
Ssdh1 anticorps

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

GENE ID	SPECIES
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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Show all anti-Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1) Anticorps with Pubmed References

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

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

Antigen Summary

Alternative names and synonyms associated with ALDH5A1

Protein level used designations for ALDH5A1