COASY

Coenzyme A synthase

Summary

Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane trafficking and signal transduction. This gene encodes the bifunctional protein coenzyme A synthase (CoAsy) which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this bifunctional protein catalyzes the conversion of 4'-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its dephospho-CoA kinase domain completes the final step by phosphorylating dpCoA to form CoA. Mutations in this gene are associated with neurodegeneration with brain iron accumulation (NBIA). Alternative splicing results in multiple isoforms. [provided by RefSeq, Apr 2014]

Known Variants276 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1294557517:40,713,071C/Tupstream gene variant—
rs62986117:40,714,014C/A—benign
rs155562453217:40,714,202C/G—likely benign
rs53754134017:40,714,246G/C—likely benign
rs74724280017:40,714,406C/G—likely benign
rs77474832817:40,714,435G/A—likely benign
rs74991443917:40,714,443G/A—uncertain significance
rs75961166417:40,714,500C/T—uncertain significance
rs230113217:40,714,525C/T—likely benign
rs122447999417:40,714,636G/A—uncertain significance
rs14785247417:40,714,640C/T—conflicting classifications of pathogenicity
rs209298107717:40,714,655G/T—likely benign
rs209298116117:40,714,663T/G—uncertain significance
rs11741946617:40,714,665C/T—likely benign
rs127915438617:40,714,680C/G—uncertain significance
rs57106831617:40,714,681C/T—uncertain significance
rs37585906617:40,714,694A/G—likely benign
rs251067670717:40,714,703C/T—likely benign
rs14572398317:40,714,721C/T—likely benign
rs214319088917:40,714,726C/T—uncertain significance
rs102106749017:40,714,727G/A—likely benign
rs54721592417:40,714,733G/A—likely benign
rs74557636017:40,714,736G/A—likely benign
rs76933003517:40,714,749C/G—uncertain significance
rs77512601517:40,714,751C/T—likely benign
rs37282568217:40,714,753A/G—uncertain significance
rs251067692017:40,714,754T/C—likely benign
rs7616905017:40,714,758C/T—uncertain significance
rs37631860117:40,714,761C/T—likely benign
rs55671240717:40,714,768C/G—uncertain significance
rs20000913517:40,714,796G/C—likely benign
rs159771218417:40,714,801A/C—uncertain significance
rs123465801817:40,714,802G/A—likely benign
rs61594217:40,714,804A/C—benign
rs20181980317:40,714,811C/T—likely benign
rs58777713617:40,714,815C/Tstop gainedpathogenic
rs37076511917:40,714,833C/T—uncertain significance
rs251067721917:40,714,839T/G—uncertain significance
rs138605928217:40,714,841C/A—uncertain significance
rs11539031217:40,714,846C/T—uncertain significance
rs14813222017:40,714,847G/A—likely benign
rs77553197917:40,714,850C/T—likely benign
rs14135062117:40,714,851C/A—uncertain significance
rs143554120817:40,714,855A/G—conflicting classifications of pathogenicity
rs37420640617:40,714,864C/G—uncertain significance
rs54447233017:40,714,879A/G—uncertain significance
rs126549401317:40,714,881T/C—likely benign
rs209298355117:40,714,886C/A—uncertain significance
rs11581722717:40,714,887G/T—uncertain significance
rs139736009917:40,714,888T/C—uncertain significance
rs77200707117:40,714,908A/G—uncertain significance
rs214319388117:40,714,915C/A—uncertain significance
rs89378737717:40,714,932C/T—uncertain significance
rs131340211117:40,714,933C/T—uncertain significance
rs74684957417:40,714,946C/T—likely benign
rs214319444617:40,714,951T/A—uncertain significance
rs53089586117:40,714,967C/T—likely benign
rs76899095017:40,714,980G/A—uncertain significance
rs55270947617:40,714,988A/G—likely benign
rs36887534017:40,714,990A/T—uncertain significance
rs214319500317:40,714,991T/C—likely benign
rs214319503717:40,714,992T/C—uncertain significance
rs117564213017:40,714,996A/G—uncertain significance
rs251067791317:40,715,001C/G—uncertain significance
rs214319538417:40,715,022C/A—uncertain significance
rs75422545117:40,715,023C/T—uncertain significance
rs37765032617:40,715,024G/T—likely benign
rs156790371117:40,715,034C/T—pathogenic
rs37442985517:40,715,042G/T—likely benign
rs52858786517:40,715,043C/T—uncertain significance
rs251067805517:40,715,047A/T—uncertain significance
rs37218460117:40,715,051C/T—likely benign
rs251067809417:40,715,057C/T—likely benign
rs147572031917:40,715,063C/A—pathogenic
rs76900548617:40,715,074C/T—uncertain significance
rs209298488717:40,715,077G/A—uncertain significance
rs251067820817:40,715,078A/T—likely benign
rs14229780117:40,715,084C/G—likely benign
rs15029215617:40,715,087G/A—likely benign
rs121502819117:40,715,094C/T—likely benign
rs214319672617:40,715,100T/G—uncertain significance
rs36902772217:40,715,101C/G—uncertain significance
rs75106954717:40,715,158C/A—likely benign
rs77997418617:40,715,177C/T—likely benign
rs77233128117:40,715,185G/A—uncertain significance
rs209298565417:40,715,187T/C—uncertain significance
rs53579629217:40,715,188C/T—uncertain significance
rs37579991617:40,715,197A/G—uncertain significance
rs77707836717:40,715,204G/C—likely benign
rs116534754117:40,715,213C/T—conflicting classifications of pathogenicity
rs76257341117:40,715,216C/T—likely benign
rs214319850817:40,715,230G/A—uncertain significance
rs36897637217:40,715,237G/A—likely benign
rs251067881117:40,715,242A/G—uncertain significance
rs14947512417:40,715,255C/A—uncertain significance
rs122471181517:40,715,256G/T—uncertain significance
rs36944967017:40,715,275G/T—uncertain significance
rs209298652617:40,715,280G/A—uncertain significance
rs156790406617:40,715,281C/T—likely pathogenic
rs37239460617:40,715,284G/A—uncertain significance

Showing 100 of 276 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.