ABAT
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| Location (UCSC) | Chr 16: 8.67 – 8.78 Mb | Chr 16: 8.33 – 8.44 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
4-Aminobutyrate aminotransferase is a
Characteristic
GABA's feature is that it does not fluorescent nor electroactive which is why it is hard to determine the reaction of enzymes because no peroxidase and dehydrogenase was identified.[11] One characteristic of GABA is having low lipophilic which results in the difficulty to cross the blood brain barrier. A lot of researchers have been trying to discover molecules that have a property of high lipophilicity.[10] The quantification of GABA concentration during cell activity needs to have high spatial and temporal resolution. As before, high performance liquid chromatography (HPLC) was used in quantifying GABA concentration levels. In present time, GABA is now analyze, measured in small volume with a short period of time with the use of electrochemiluminescence.[11] GABA acts as a tropic factor which then affects some cell activity such as rapid cell reproduction, cell death and differentiation. Intracellular communication is also one of the many functions of GABA outside the nervous system.[11]
Function
4-Aminobutyrate aminotransferase (ABAT) is responsible for
ABAT activates the beginning of deterioration of GABA. Likewise, suppression of ABAT results in depletion of transient lower esophageal sphincter relaxation (TLESR) and acid reflux activity. Treating of GERD is possible means of suppressing ABAT's physiology.[7]
ABAT Deficiency
ABAT defect is uncommon disorder. The signs and symptoms of this deficiency were observed from a Dutch family, two of the siblings, and a 6-month pediatric Japanese. These patients have same signs and symptoms that were observed. This include low muscle tone or known as
Decrease level of GABA concentration results in convulsion.[13]
Medicine
Vigabatrin is a drug that is irreparably suppresses GABA transaminase that causes increased amount of GABA in the brain.[14]
Discovery
In a recent study, it was found out that the increase amount of GABA will stop the consequences of drug addiction.[15] The suppression of ABAT which causing the amount of GABA to increase has a connection to children with those suffer from movement disability.[12] This gene is also link as one genetic cause of GERD.[7]
ABAT has been proved that it is important in mitochondrial nucleoside.[13]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000183044 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057880 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c "Entrez Gene: 4-aminobutyrate aminotransferase".
- ^ PMID 11837891.
- ^ PMID 21552517.
- PMID 16096275.
- PMID 7140743.
- ^ PMID 29747438.
- ^ PMID 29653023.
- ^ S2CID 6403837.
- ^ PMID 29241534.
- PMID 28532644.
- PMID 11853435.
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 (June 1999). "4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency". Journal of Inherited Metabolic Disease. 22 (4): 414–27. S2CID 11874078.
- Jeremiah S, Povey S (July 1981). "The biochemical genetics of human gamma-aminobutyric acid transaminase". Annals of Human Genetics. 45 (3): 231–6. S2CID 84674735.
- De Biase D, Barra D, Simmaco M, John RA, Bossa F (January 1995). "Primary structure and tissue distribution of human 4-aminobutyrate aminotransferase". European Journal of Biochemistry. 227 (1–2): 476–80. PMID 7851425.
- Chakrabarti B, Dudbridge F, Kent L, Wheelwright S, Hill-Cawthorne G, Allison C, Banerjee-Basu S, Baron-Cohen S (June 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. S2CID 18239947.
- Jirholt J, Asling B, Hammond P, Davidson G, Knutsson M, Walentinsson A, Jensen JM, Lehmann A, Agreus L, Lagerström-Fermer M (April 2011). "4-aminobutyrate aminotransferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux disease". PLOS ONE. 6 (4): e19095. PMID 21552517.
- Rainesalo S, Saransaari P, Peltola J, Keränen T (March 2003). "Uptake of GABA and activity of GABA-transaminase in platelets from epileptic patients". Epilepsy Research. 53 (3): 233–9. S2CID 37556128.
- Jaeken J, Casaer P, de Cock P, Corbeel L, Eeckels R, Eggermont E, Schechter PJ, Brucher JM (August 1984). "Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism". Neuropediatrics. 15 (3): 165–9. S2CID 23458617.
- Hearl WG, Churchich JE (September 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.