4-aminobutyrate transaminase

4-aminobutyrate transaminase
4-ami·no·bu·ty·rate trans·am·i·nase (ə-me″no-buґtə-rāt trans-amґĭ-nās) [EC 2.6.1.19] an enzyme of the transferase class that catalyzes the transfer of an amino group from γ-aminobutyrate (GABA) to α-ketoglutarate, forming glutamate and succinate semialdehyde. The reaction occurs predominantly in the liver and in the neurons of the brain. The enzyme can also act on β-alanine and β-aminoisobutyrate. Deficiency of the enzyme, an autosomal recessive trait, causes psychomotor retardation, hypotonia, hyperreflexia, and accelerated linear growth, with high levels of GABA, homocarnosine, and β-alanine in the cerebrospinal fluid. See also β-alanine–α-ketoglutarate transaminase. Called also GABA transaminase and aminobutyrate aminotransferase.

Medical dictionary. 2011.

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