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Mutations in the ALDH7A1 gene encoding alpha-amino-adipic semialdehyde (alpha-AASA) dehydrogenase (antiquitin) have been identified as the cause of PDE. We report on a novel ALDH7A1 mutation in a Tunisian child with PDE.
Wild-type ALDH7A1 is shown to exist in a dimer-tetramer equilibrium with a dissociation constant of 16 muM. In contrast to the wild-type enzyme, the variants reside in monomer-dimer equilibria and are apparently incapable of forming a tetrameric species, even at high enzyme concentration.
results suggest that the C-terminus of ALDH7A1 is crucial for the maintenance of both the oligomeric state and the catalytic activity.
We present the clinical and molecular genetic findings of two patients with c.1597_1597delG mutations in ALDH7A1 gene.
Direct sequencing of the ALDH7A1 gene revealed one novel (c.297delG, p.Trp99*) and two already reported (c.328C>T, p.Arg110*; c.584A>G, p.Asn195Ser) mutations
This study found five novel mutations of ALDH7A1 gene in pyridoxin dependent epilepsy.
Binding to ALDH7A1 is associated with movement of the C-terminus into the active site which stabilizes the substrate anchor loop.
Using a custom array, study identified heterozygous intragenic deletions in the ALDH7A1 gene in 5 of 6 patients with pyridoxine-dependent epilepsy and positive biomarkers who had only a single mutation identified by conventional sequence analysis
our study indicated that the ALDH7A1 rs13182402 polymorphism was associated with risk of ESCC in Chinese populations.
Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants
ALDH7A1 is a novel aldehyde dehydrogenase expressed in multiple subcellular compartments that protects against hyperosmotic stress by generating osmolytes and metabolizing toxic aldehydes
The expression intensity for the aldehyde dehydrogenase 7A1 (ALDH7A1) mRNA and protein was significantly higher in C57BL/6 mice than DBA (show RPS19 Proteins)/2 mice.
The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified.
aldehyde dehydrogenase 7 family, member A1
, alpha-aminoadipic semialdehyde dehydrogenase
, 26g turgor protein homolog
, P6c dehydrogenase
, alpha-AASA dehydrogenase
, betaine aldehyde dehydrogenase
, delta1-piperideine-6-carboxylate dehydrogenase
, aldehyde dehydrogenase family 7 member A1
, aldehyde dehydrogenase family 7, member A1
, delta1-piperideine-6-carboxylate dehydrogenease