MUC5AC

mucin 5AC, oligomeric mucus/gel-forming

Summary

Predicted to enable extracellular matrix constituent, lubricant activity. Predicted to be an extracellular matrix structural constituent. Predicted to act upstream of or within maintenance of lens transparency. Located in extracellular space and mucus layer. Implicated in dry eye syndrome. Biomarker of several diseases, including Sjogren's syndrome; biliary tract disease (multiple); cystic fibrosis; eye disease (multiple); and pancreatic cancer (multiple). [provided by Alliance of Genome Resources, Jul 2025]

Known Variants29 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7460777911:1,154,251G/Amissense variant—
rs249400421811:1,155,246T/C—uncertain significance
rs20210138511:1,155,597C/T—likely benign
rs2870707111:1,157,476C/Gintron variant—
rs249401751511:1,159,472G/T—uncertain significance
rs13789556311:1,212,846T/C—likely benign
rs7531347511:1,212,909C/A—likely benign
rs20106908111:1,212,942T/C—likely benign
rs7610389211:1,212,966C/T—likely benign
rs2887584111:1,213,038T/C—likely benign
rs37194949011:1,213,089C/T—likely benign
rs2844319011:1,213,095C/G—likely benign
rs7713710011:1,213,155C/T—likely benign
rs7846647911:1,213,296A/G—likely benign
rs57404542111:1,213,404C/G—likely benign
rs6186753411:1,213,461T/C—likely benign
rs7872324211:1,213,560C/T—likely benign
rs14986012711:1,213,644C/A—likely benign
rs7284634311:1,213,665G/A—likely benign
rs76397748311:1,214,155C/A—uncertain significance
rs249410076911:1,214,745A/G—uncertain significance
rs207584211:1,215,056G/A——
rs18815223411:1,215,481C/T—likely benign
rs7848384711:1,215,726A/G—likely benign
rs37319626511:1,216,272C/T—likely benign
rs249411147211:1,218,623G/T—uncertain significance
rs3466604211:1,219,773C/Tintron variant—
rs207584411:1,221,305A/Gintron variant—
rs308756211:1,221,985C/Tcoding sequence variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.