LACTB

lactamase beta

Summary

This gene encodes a mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in this protein, suggesting it may have a different enzymatic function. Increased expression of the related mouse gene was found to be associated with obesity. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Dec 2013]

Known Variants38 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77179501915:63,414,077C/T—uncertain significance
rs3492548815:63,414,116G/C—benign
rs77835090815:63,414,120G/C—uncertain significance
rs3429780015:63,414,143C/T—benign
rs203697847515:63,414,254G/C—uncertain significance
rs214106556515:63,414,255G/T—uncertain significance
rs254300149315:63,414,276C/T—uncertain significance
rs76792314515:63,414,339C/G—uncertain significance
rs132018707815:63,414,347C/A—uncertain significance
rs140006523415:63,414,394C/G—uncertain significance
rs18979661915:63,414,723T/C——
rs122905349715:63,414,853G/A—uncertain significance
rs75295018015:63,419,073A/T—uncertain significance
rs136833661515:63,419,104G/C—uncertain significance
rs254300770415:63,419,153C/T—uncertain significance
rs77872057315:63,419,162T/G—uncertain significance
rs254300781815:63,419,202A/C—uncertain significance
rs5902704115:63,419,545C/A—benign
rs77212579115:63,419,618A/G—uncertain significance
rs254300870015:63,419,742A/C—uncertain significance
rs20123553915:63,419,763G/A—uncertain significance
rs14238140515:63,419,840A/G—uncertain significance
rs254300888915:63,419,857A/T—uncertain significance
rs18693252115:63,421,743G/A—uncertain significance
rs139665136115:63,421,786A/T—uncertain significance
rs265282215:63,422,772T/Cintron variant—
rs147263115:63,423,739A/Gintron variant—
rs77232262315:63,433,505G/A—uncertain significance
rs75478750615:63,433,598C/T—uncertain significance
rs254302081415:63,433,619T/C—uncertain significance
rs120869355815:63,433,703C/T—uncertain significance
rs74673382915:63,433,775C/T—uncertain significance
rs146329176415:63,433,787G/A—uncertain significance
rs77105045715:63,433,798C/T—uncertain significance
rs6173205415:63,433,800G/A—benign
rs146393930215:63,433,871A/G—uncertain significance
rs118432260715:63,433,882A/G—uncertain significance
rs104086686615:63,433,894G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.