ABAT Antibody

1. This study utilized ER+ IBC to identify a metagene including ABAT and STC2 as predictive biomarkers for endocrine therapy resistance. PMID: 25771305
2. A-to-G transition at nucleotide 754 of the human ABAT gene identified in lymphoblast cDNA (c.754A>G) results in substitution of an invariant arginine at amino acid 220 by lysine (p.Arg220Lys). This point mutation results in destabilization of the binding of pyridoxal-5'-phosphate to GABA-transaminase (required for transamination of GABA to succinic semialdehyde) and thus results in GABA-transaminase deficiency. PMID: 25485164
3. Findings point to a possible role of ABAT gene-regulated GABA catabolism for an altered processing of somatosensory stimuli as a potential vulnerability marker for affective disorders. PMID: 22225676
4. direct involvement of ABAT in pathways affecting lower esophageal sphincter (LES) control in gastro esophageal reflux disease PMID: 21552517
5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20659789
6. excessive prenatal GABA exposure in the central nervous system (CNS) is responsible for the clinical manifestations of GABA transaminase deficiency [case report] PMID: 20052547
7. Marked differences in platelet uptake of GABA and activity of catabolic enzyme GABA-T between patients with generalized and localization-related epileptic syndromes. May indicate an impairment in function of brain GABAergic systems. PMID: 12694932
8. results suggest that the Cys321 residue is essential for the catalytic function of GABAT, and that it is involved in the formation of a disulfide link between two monomers of human brain GABAT PMID: 15528998
9. lysine 357 is essential for catalytic function of brain GABA transaminase, and is involved in binding PLP at the active site PMID: 15650327
10. Analysis of the autistic disorder susceptibility locus suggests an association on chromosome 16p between GRIN2A and ABAT. PMID: 15830322

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HGNC: 23

OMIM: 137150

KEGG: hsa:18

STRING: 9606.ENSP00000268251

UniGene: Hs.336768