ABAT

4-aminobutyrate aminotransferase

Summary

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]

Known Variants605 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88605238716:8,768,460C/A—uncertain significance
rs93762292416:8,768,483C/G—uncertain significance
rs53158933716:8,768,503G/A—uncertain significance
rs53226969416:8,768,558G/T—uncertain significance
rs5979196916:8,799,163G/Adownstream gene variant—
rs56135435016:8,814,937C/G——
rs116081581216:8,829,597A/G—uncertain significance
rs76291286216:8,829,604C/A—uncertain significance
rs205890564216:8,829,609T/C—likely benign
rs134624543416:8,829,610T/G—uncertain significance
rs76634916016:8,829,614C/T—likely benign
rs14121369416:8,829,615G/A—uncertain significance
rs135573931016:8,829,618C/T—pathogenic
rs20170167916:8,829,621C/T—uncertain significance
rs53178333716:8,829,622G/A—conflicting classifications of pathogenicity
rs3481366216:8,829,626G/A—likely benign
rs254895995516:8,829,632C/T—likely benign
rs156729399516:8,829,638C/G—uncertain significance
rs37533763816:8,829,640A/T—uncertain significance
rs13827096416:8,829,641G/C—uncertain significance
rs7769619016:8,829,651C/T—conflicting classifications of pathogenicity
rs78036895916:8,829,652G/A—uncertain significance
rs142820392716:8,829,653C/T—likely benign
rs74728335716:8,829,654C/G—uncertain significance
rs76879845216:8,829,656G/A—likely benign
rs254896009216:8,829,657C/G—uncertain significance
rs76271051116:8,829,660G/C—uncertain significance
rs254896012416:8,829,661T/A—uncertain significance
rs77085009916:8,829,662G/A—likely benign
rs36937638816:8,829,664C/A—uncertain significance
rs254896016616:8,829,666G/A—uncertain significance
rs36994444716:8,829,672C/A—uncertain significance
rs135092950516:8,829,673C/T—likely benign
rs37414710916:8,829,675C/T—likely benign
rs55374501316:8,829,676G/A—likely benign
rs76034532116:8,829,678G/A—likely benign
rs128222998716:8,829,679G/T—likely benign
rs205890941816:8,829,680G/A—likely benign
rs142270652216:8,829,682C/T—likely benign
rs76370430016:8,829,686A/C—likely benign
rs164099816:8,829,715C/T—benign
rs214262226416:8,839,839T/C—likely benign
rs37151338516:8,839,848T/C—likely benign
rs78084328416:8,839,854G/A—likely benign
rs205931744516:8,839,861C/G—uncertain significance
rs214262308316:8,839,864G/C—uncertain significance
rs254900776016:8,839,866C/A—uncertain significance
rs205931791316:8,839,883A/C—likely benign
rs205931802616:8,839,889A/C—uncertain significance
rs76684983516:8,839,893G/A—uncertain significance
rs75165052016:8,839,895C/A—uncertain significance
rs14011917616:8,839,896G/A—uncertain significance
rs37378184416:8,839,897T/G—uncertain significance
rs139668204116:8,839,909A/C—uncertain significance
rs222808116:8,839,916G/A—benign
rs254900801416:8,839,922G/A—likely benign
rs75601804916:8,839,930C/T—uncertain significance
rs77769990316:8,839,931G/T—likely benign
rs77536028616:8,839,932G/T—likely pathogenic
rs214262498616:8,839,937C/T—likely benign
rs136843089016:8,839,940A/C—likely benign
rs95547866916:8,839,943G/A—likely benign
rs90390685616:8,839,945C/T—uncertain significance
rs205932023316:8,839,950T/C—uncertain significance
rs173101716:8,839,954A/Gmissense variantbenign
rs156730073616:8,839,956G/A—pathogenic
rs129498566616:8,839,958G/A—uncertain significance
rs53964145016:8,839,960G/T—uncertain significance
rs205932085916:8,839,961T/A—uncertain significance
rs7515131116:8,839,967A/G—benign
rs75961012916:8,839,968C/T—conflicting classifications of pathogenicity
rs124907607816:8,839,973G/C—likely benign
rs254900842916:8,839,975G/T—likely benign
rs173103316:8,841,309G/Aintron variant—
rs75407743216:8,841,952T/A—likely benign
rs205938386316:8,841,957G/C—likely benign
rs75816605516:8,841,959C/T—conflicting classifications of pathogenicity
rs164101016:8,841,960T/A—uncertain significance
rs93987680016:8,841,963A/G—likely pathogenic
rs53974810216:8,841,966A/C—uncertain significance
rs205938453016:8,841,977C/T—likely pathogenic
rs205938465116:8,841,982G/T—likely benign
rs75620960016:8,841,986A/G—uncertain significance
rs77751866916:8,842,001G/A—likely benign
rs74892298616:8,842,004G/A—likely benign
rs254901589716:8,842,010G/A—likely benign
rs254902460516:8,844,261G/A—likely benign
rs254902461716:8,844,266T/C—likely benign
rs76750113716:8,844,270T/A—likely benign
rs148825070516:8,844,272C/T—likely benign
rs118957558516:8,844,273T/C—likely benign
rs254902467416:8,844,277A/C—likely pathogenic
rs254902468616:8,844,279A/T—uncertain significance
rs75270174016:8,844,285G/A—uncertain significance
rs54010935016:8,844,288G/T—uncertain significance
rs75684764816:8,844,294C/A—uncertain significance
rs205944672016:8,844,304G/T—uncertain significance
rs139790446316:8,844,306A/G—uncertain significance
rs99995071516:8,844,308T/C—likely benign
rs74615402916:8,844,311C/T—likely benign

Showing 100 of 605 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.