ABAT
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4-Aminobutyrate aminotransferase is a protein that in humans is encoded by the ABAT gene.[3]
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.[3]
References
External links
- Human ABAT genome location and ABAT gene details page in the UCSC Genome Browser.
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. PMC 3084265
. 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.