Aldehyde Dehydrogenase 5 Family Member A1 (ALDH5A1) Antibody

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Descripción

ALDH5A1, also known as succinic semialdehyde dehydrogenase (SSADH), is a mitochondrial enzyme involved in the catabolism of gamma-aminobutyric acid (GABA), an important inhibitory neurotransmitter. ALDH5A1 catalyzes the oxidation of succinic semialdehyde (SSA) to succinate, a key intermediate in the tricarboxylic acid (TCA) cycle, linking GABA metabolism to cellular energy production. Mutations in ALDH5A1 result in succinic semialdehyde dehydrogenase deficiency, a rare autosomal recessive disorder that causes the accumulation of SSA and GABA, leading to neurological symptoms such as developmental delays, hypotonia, seizures, and ataxia. ALDH5A1 plays a crucial role in maintaining GABA homeostasis and preventing neurotoxicity. Its dysfunction highlights the importance of proper neurotransmitter balance and energy metabolism in neurological health. Therapies targeting ALDH5A1 function focus on reducing SSA accumulation and alleviating associated neurological impairments.

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