ACER3

alkaline ceramidase 3

Summary

Enables N-acylsphingosine amidohydrolase activity; calcium ion binding activity; and zinc ion binding activity. Involved in several processes, including myelination; positive regulation of cell population proliferation; and sphingolipid metabolic process. Located in Golgi membrane and endoplasmic reticulum membrane. Biomarker of hepatocellular carcinoma and metabolic dysfunction-associated steatohepatitis. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants72 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77760477811:76,572,024G/C—uncertain significance
rs74622773711:76,572,030G/A—uncertain significance
rs77033680111:76,572,038C/T—likely benign
rs13866284311:76,572,065C/G—likely benign
rs136220128411:76,572,071G/A—likely benign
rs147848260411:76,572,072C/T—likely benign
rs194492373511:76,572,073T/C—uncertain significance
rs120255185211:76,572,093T/C—uncertain significance
rs249605099411:76,572,094A/G—uncertain significance
rs155498803211:76,572,118A/G—uncertain significance
rs249631622711:76,637,619T/G—uncertain significance
rs213481268111:76,637,641G/A—uncertain significance
rs77646437911:76,637,644C/T—benign
rs37231453411:76,637,645G/A—uncertain significance
rs437986911:76,637,651G/A—benign
rs133287484211:76,637,655A/G—uncertain significance
rs78103564711:76,637,675G/C—uncertain significance
rs55515522111:76,637,679A/G—uncertain significance
rs447901411:76,637,680G/A—benign
rs75535719611:76,637,682G/A—uncertain significance
rs14246943111:76,637,687A/G—uncertain significance
rs460491411:76,637,730C/G—benign
rs37597749311:76,670,007A/C—likely benign
rs139074755211:76,670,025G/T—uncertain significance
rs194791487611:76,670,035G/A—uncertain significance
rs213503765711:76,670,046T/C—uncertain significance
rs76946386011:76,687,328T/G—likely benign
rs77632306711:76,687,354A/T—uncertain significance
rs194844263211:76,687,357T/C—uncertain significance
rs151790911:76,687,399A/C—benign
rs37614351911:76,696,683C/G—benign
rs249587211911:76,696,717A/C—likely benign
rs37082245311:76,696,738C/T—likely benign
rs115658226111:76,696,757A/C—uncertain significance
rs249587243711:76,696,760G/C—uncertain significance
rs14598232411:76,696,768A/G—uncertain significance
rs374076711:76,701,606A/G—benign
rs144035327411:76,701,616C/T—pathogenic
rs36772099511:76,701,629G/C—likely benign
rs78260850711:76,709,794C/T—likely benign
rs1123705311:76,709,795G/A—benign
rs155501914811:76,709,801A/G—likely benign
rs155501915011:76,709,813T/C—uncertain significance
rs37343754511:76,709,834T/C—likely benign
rs155501916611:76,709,840C/T—uncertain significance
rs78232979011:76,709,843C/T—likely pathogenic
rs249594140811:76,709,855A/G—uncertain significance
rs249594147611:76,709,861A/G—uncertain significance
rs78236095311:76,726,055C/A—likely benign
rs249602035611:76,726,061G/A—uncertain significance
rs213532385911:76,726,067C/T—uncertain significance
rs249602054011:76,726,092C/T—uncertain significance
rs78214011711:76,726,097T/C—likely benign
rs14192521511:76,726,103A/G—likely benign
rs130994610111:76,726,112T/C—likely benign
rs78191517411:76,726,114G/A—likely benign
rs194934292311:76,726,128G/A—pathogenic
rs36898887011:76,726,137A/G—uncertain significance
rs78243508611:76,726,149G/A—uncertain significance
rs148367323311:76,726,167A/G—uncertain significance
rs249602982111:76,727,709C/G—likely benign
rs78270900911:76,727,726C/T—pathogenic
rs102465157511:76,727,735G/A—uncertain significance
rs78267319611:76,727,750G/T—pathogenic
rs249603073711:76,727,830A/G—likely benign
rs1089934311:76,730,224G/A—benign
rs194944068011:76,730,815G/A—uncertain significance
rs19271070611:76,730,837G/C—likely benign
rs7480010611:76,731,300T/C—benign
rs20195346011:76,731,353G/A—likely benign
rs14793078211:76,731,362G/A—likely benign
rs37494966111:76,731,368T/C—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.