ABAT

ABAT (4-aminobutyrate aminotransferase) is an enzyme that is encoded by the ABAT gene in humans. It is involved in the metabolism of gamma-aminobutyric acid (GABA), a neurotransmitter in the central nervous system.

Function

ABAT is a pyridoxal phosphate-dependent enzyme that is primarily located in the mitochondria. It catalyzes the conversion of gamma-aminobutyric acid (GABA) and 2-oxoglutarate into succinic semialdehyde and L-glutamate. This is a key step in the GABA shunt, which allows for the disposal of excess GABA.

Clinical significance

Mutations in the ABAT gene have been associated with a number of neurological disorders. These include GABA-transaminase deficiency, a rare disorder characterized by seizures, hypotonia, and developmental delay. In addition, ABAT has been implicated in the pathogenesis of epilepsy and neuropsychiatric disorders.

Structure

The ABAT gene is located on the long arm of chromosome 16 (16p13.2). It spans approximately 25 kilobases and contains 11 exons. The encoded protein is a homodimer with a molecular weight of approximately 55 kDa.

See also

• GABA shunt
• GABA-transaminase deficiency
• Pyridoxal phosphate

References

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External links

• ABAT at the National Center for Biotechnology Information