ABAT gene

4-aminobutyrate aminotransferase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]

From UniProt:

Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine.

From NCBI Gene:

  • Gamma-aminobutyric acid transaminase deficiency

From UniProt:

GABA transaminase deficiency (GABATD): An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. [MIM:613163]

Cytogenetic Location: 16p13.2, which is the short (p) arm of chromosome 16 at position 13.2

Molecular Location: base pairs 8,674,587 to 8,784,575 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16p13.2, which is the short (p) arm of chromosome 16 at position 13.2
  • GABA-AT
  • GABAT
  • NPD009