GABAtransaminaasilla

GABAtransaminaasilla, also known as GABA transaminase, is an enzyme that plays a crucial role in the metabolism of gamma-aminobutyric acid (GABA), a primary inhibitory neurotransmitter in the central nervous system. GABA transaminase catalyzes the conversion of GABA into succinic semialdehyde, which is further metabolized into succinic acid. This enzyme is found in various tissues, including the brain, liver, and kidneys, and its activity is regulated by several factors, such as age, sex, and disease states.

GABA transaminase is encoded by the GABAT gene, which is located on chromosome 19q13.3 in humans. Mutations in this gene have been associated with several neurological disorders, including GABA transaminase deficiency, a rare inherited metabolic disorder characterized by seizures, developmental delay, and intellectual disability. The enzyme is also a target for certain medications, such as vigabatrin, which inhibits GABA transaminase and increases GABA levels in the brain, leading to anticonvulsant effects.

The activity of GABA transaminase can be measured in biological samples, such as blood or urine, and is often used as a diagnostic tool for GABA transaminase deficiency. The enzyme's role in GABA metabolism makes it an important target for research into the treatment of neurological disorders and the development of new therapeutic agents.