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

Gene information from NCBI Gene. Variant classifications from ClinVar.