ABAT Chromosome 16

4-aminobutyrate aminotransferase
64 variants 64 Health Risk

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What This Gene Does
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, Jul 2008]
Gene Info
Gene Group
Transaminases
Locus Type
gene with protein product
Location
16p13.2
Ensembl
ENSG00000183044
Associated Conditions (3)
Gamma-aminobutyric acid transaminase deficiency
Inborn genetic diseases
ABAT-related disorder
Key Variants
RS10261
Conflicting classifications of pathogenicity
Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
Health Risk
RS1057523345
Conflicting classifications of pathogenicity
Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
Health Risk
RS112564762
Conflicting classifications of pathogenicity
Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
Health Risk
RS1139522
Conflicting classifications of pathogenicity
Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
Health Risk
RS1353981722
Conflicting classifications of pathogenicity
Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
Health Risk
RS1389255922
Conflicting classifications of pathogenicity
Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
Health Risk
RS141279192
Conflicting classifications of pathogenicity
Gamma-aminobutyric acid transaminase deficiency, Inborn genetic diseases, Gamma-aminobutyric acid transaminase deficiency
Health Risk
RS147226856
Conflicting classifications of pathogenicity
Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
Health Risk
RS147765799
Conflicting classifications of pathogenicity
Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
Health Risk
RS149855547
Conflicting classifications of pathogenicity
Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
Health Risk
RS150914629
Conflicting classifications of pathogenicity
Gamma-aminobutyric acid transaminase deficiency, ABAT-related disorder, Gamma-aminobutyric acid transaminase deficiency
Health Risk
RS201727625
Conflicting classifications of pathogenicity
Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
Health Risk
All Variants (64)
RSID Category Clinical Significance Conditions
RS10261 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1057523345 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS112564762 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1139522 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1353981722 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1389255922 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS141279192 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Inborn genetic diseases, Gamma-aminobutyric acid transaminase deficiency
RS147226856 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS147765799 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS149855547 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS150914629 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, ABAT-related disorder, Gamma-aminobutyric acid transaminase deficiency
RS201727625 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2060222738 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2060432508 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS374865268 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS376531387 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Inborn genetic diseases, Gamma-aminobutyric acid transaminase deficiency
RS376574278 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS376708126 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS531783337 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Inborn genetic diseases, Gamma-aminobutyric acid transaminase deficiency
RS573157071 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS758166055 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS758870080 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS759203240 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS759610129 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS763045532 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS770156912 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS77696190 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS778110660 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS781499078 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Inborn genetic diseases, Gamma-aminobutyric acid transaminase deficiency
RS917180192 Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1064796422 Health Risk Likely pathogenic —
RS1428777126 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1596472500 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2059384530 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2142947295 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2548959757 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549024674 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549072961 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549078035 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549085900 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549085955 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549102815 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549111395 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549124957 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS368460023 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS748719662 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS775360286 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS786205496 Health Risk Likely pathogenic —
RS939876800 Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS121434578 Health Risk Pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
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