ABAT

4-aminobutyrate aminotransferase
Identifiers
Symbols	ABAT ; GABA-AT; GABAT; NPD009
External IDs	OMIM: 137150 HomoloGene: 542 IUPHAR: 2464 GeneCards: ABAT Gene
EC number	2.6.1.19, 2.6.1.22
Gene ontology Molecular function • 4-aminobutyrate transaminase activity • 4-aminobutyrate transaminase activity • pyridoxal phosphate binding • succinate-semialdehyde dehydrogenase binding • protein homodimerization activity • metal ion binding • (S)-3-amino-2-methylpropionate transaminase activity • iron-sulfur cluster binding Cellular component • mitochondrion • mitochondrion • mitochondrial matrix • 4-aminobutyrate transaminase complex • neuron projection • extracellular exosome Biological process • response to hypoxia • synaptic transmission • neurotransmitter secretion • copulation • locomotory behavior • gamma-aminobutyric acid catabolic process • response to iron ion • response to nicotine • neurotransmitter catabolic process • response to drug • response to ethanol • negative regulation of blood pressure • behavioral response to cocaine Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	18	268860
Ensembl	ENSG00000183044	ENSMUSG00000057880
UniProt	P80404	P61922
RefSeq (mRNA)	NM_000663	NM_001170978
RefSeq (protein)	NP_000654	NP_001164449
Location (UCSC)	Chr 16: 8.67 – 8.78 Mb	Chr 16: 8.51 – 8.62 Mb
PubMed search

4-Aminobutyrate aminotransferase is a protein that in humans is encoded by the ABAT gene.^[1]

Function

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.^[1]

References

1. "Entrez Gene: 4-aminobutyrate aminotransferase".

Further reading

• Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan WL, Gibson KM (Jun 1999). "4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency". Journal of Inherited Metabolic Disease 22 (4): 414–27. doi:10.1023/A:1005500122231. PMID 10407778.
• Jeremiah S, Povey S (Jul 1981). "The biochemical genetics of human gamma-aminobutyric acid transaminase". Annals of Human Genetics 45 (Pt 3): 231–6. doi:10.1111/j.1469-1809.1981.tb00334.x. PMID 7305280.
• De Biase D, Barra D, Simmaco M, John RA, Bossa F (Jan 1995). "Primary structure and tissue distribution of human 4-aminobutyrate aminotransferase". European Journal of Biochemistry / FEBS 227 (1-2): 476–80. doi:10.1111/j.1432-1033.1995.tb20412.x. PMID 7851425.
• Chakrabarti B, Dudbridge F, Kent L, Wheelwright S, Hill-Cawthorne G, Allison C, Banerjee-Basu S, Baron-Cohen S (Jun 2009). "Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome". Autism Research 2 (3): 157–77. doi:10.1002/aur.80. PMID 19598235.
• Jirholt J, Asling B, Hammond P, Davidson G, Knutsson M, Walentinsson A, Jensen JM, Lehmann A, Agreus L, Lagerström-Fermer M (2011). "4-aminobutyrate aminotransferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux disease". PLOS ONE 6 (4): e19095. doi:10.1371/journal.pone.0019095. PMID 21552517.
• Rainesalo S, Saransaari P, Peltola J, Keränen T (Mar 2003). "Uptake of GABA and activity of GABA-transaminase in platelets from epileptic patients". Epilepsy Research 53 (3): 233–9. doi:10.1016/s0920-1211(03)00030-5. PMID 12694932.
• Cohen BI (Dec 2001). "GABA-transaminase, the liver and infantile autism". Medical Hypotheses 57 (6): 673–4. doi:10.1054/mehy.2001.1350. PMID 11918424.
• Jaeken J, Casaer P, de Cock P, Corbeel L, Eeckels R, Eggermont E, Schechter PJ, Brucher JM (Aug 1984). "Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism". Neuropediatrics 15 (3): 165–9. doi:10.1055/s-2008-1052362. PMID 6148708.
• Hearl WG, Churchich JE (Sep 1984). "Interactions between 4-aminobutyrate aminotransferase and succinic semialdehyde dehydrogenase, two mitochondrial enzymes". The Journal of Biological Chemistry 259 (18): 11459–63. PMID 6470007.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.