Products

Enzyme-linked Immunoabsorbent Assay

Western Blot (Recombinant protein)

Antibody Production

Protein Array

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

ABAT

Gene Alias

FLJ17813, GABA-AT, GABAT, NPD009

Gene Description

4-aminobutyrate aminotransferase

Omim ID

Gene Ontology

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

Other Designations

GABA aminotransferase|GABA transferase|gamma-amino-N-butyrate transaminase