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ABAT - Revision history
2026-05-12T19:51:34Z
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<p><b>New page</b></p><div>'''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.<br />
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== Function ==<br />
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.<br />
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== Clinical significance ==<br />
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]].<br />
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== Structure ==<br />
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.<br />
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== See also ==<br />
* [[GABA shunt]]<br />
* [[GABA-transaminase deficiency]]<br />
* [[Pyridoxal phosphate]]<br />
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== References ==<br />
<references /><br />
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== External links ==<br />
* [https://www.ncbi.nlm.nih.gov/gene/18 ABAT] at the National Center for Biotechnology Information<br />
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[[Category:EC 2.6.1]]<br />
[[Category:Human proteins]]<br />
[[Category:Genes on human chromosome 16]]<br />
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