Gene: ABAT

Alternate names for this Gene: GABA-AT|GABAT|NPD009

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.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.2

Description of this Gene: 4-aminobutyrate aminotransferase

Type of Gene: protein-coding

Gene: TMEM186

Alternate names for this Gene: C16orf51

Gene Summary: This gene encodes a potential transmembrane protein.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.2

Description of this Gene: transmembrane protein 186

Type of Gene: protein-coding