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FLASH GENE
Symbol ALDH5A1 contributors: mct/npt - updated : 28-06-2006
HGNC name aldehyde dehydrogenase 5 family, member A1
HGNC id 408
ASSOCIATED DISORDERS
corresponding disease(s) SSADH
Susceptibility
Variant & Polymorphism
Candidate gene murine SSADH-/- (e.g. Aldh5a1-/-) mouse model suffers from epileptic seizures and succumbs to early lethality. Aldh5a1-/- mice accumulate GHB and gamma-aminobutyric acid (GABA) in the central nervous system, exhibit alterations of amino acids such as glutamine (Gln), alanine (Ala) and arginine (Arg), and manifest disturbances in other systems including dopamine, neurosteroids and antioxidant status (Knerr 2007)
Marker
Therapy target
ANIMAL & CELL MODELS