ABAT Break Apart FISH Probe

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]


Gene Details
SKU Test Kits Buffer Dye Color Order Now
ABATBA-20-REGO 20 (40 μL) 200 μL color color Request Pricing
ABATBA-20-REGR 20 (40 μL) 200 μL color color Request Pricing
ABATBA-20-ORGR 20 (40 μL) 200 μL color color Request Pricing
ABATBA-20-GOGR 20 (40 μL) 200 μL color color Request Pricing
ABATBA-20-GRRE 20 (40 μL) 200 μL color color Request Pricing
ABATBA-20-GROR 20 (40 μL) 200 μL color color Request Pricing
ABATBA-20-GRGO 20 (40 μL) 200 μL color color Request Pricing
ABATBA-20-AQOR 20 (40 μL) 200 μL color color Request Pricing

Gene Summary

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]

Gene Details

Gene Symbol : ABAT

Gene Name : 4-aminobutyrate aminotransferase

Chromosome : CHR 16: 867,458,6-878,457,4

Locus : 16p13.2

Alt. Genes : HIPK3

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