QuickView for ABAT (gene)

Gene Symbol:

ABAT Homo sapiens

Full name:

4-aminobutyrate aminotransferase

Synonyms:

GABA-AT, GABAT, NPD009, 4-aminobutyrate aminotransferase, mitochondrial, (S)-3-amino-2-methylpropionate transaminase, 4-aminobutyrate transaminase, GABA aminotransferase, GABA transaminase, GABA transferase, gamma-amino-N-butyrate transaminase

Genomic Location:

Chr 16: 8675928-8785933

Description:

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 pi...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Schizosaccharomyces pombe ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GATTGGY_NFY_Q6_01 ,  GGGNRMNNYCAT_UNKNOWN ,  ALPHACP1_01 ,  GGGCGGR_SP1_Q6 ,  NFY_01 ,  GTGCCAA_MIR96 ,  RORA1_01 ,  RORA2_01 ,  ERR1_Q2 ,  TATTATA_MIR374 ,  SF1_Q6

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-369-3p ,  Predicted Gene Targets for miR-96 ,  Predicted Gene Targets for miR-374 ,  Predicted Gene Targets for miR-409-5p

Cytogenetic Map:

16p13.2

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