CTSC

cathepsin C

Summary

This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. [provided by RefSeq, Nov 2015]

Known Variants396 total

rsidPosition (GRCh37)AllelesClassClinVar
rs95384845311:88,026,760T/C—uncertain significance
rs93955073411:88,026,793T/C—uncertain significance
rs194426549311:88,026,824T/C—uncertain significance
rs14604526811:88,026,895T/C—benign
rs11661836511:88,026,921A/G—benign
rs14305475411:88,027,174C/T—likely benign
rs389123811:88,027,189T/C—likely benign
rs388879811:88,027,209T/C—likely benign
rs249652824211:88,027,215C/G—uncertain significance
rs119045723811:88,027,217A/G—uncertain significance
rs124844928711:88,027,220G/A—uncertain significance
rs92143940211:88,027,221C/T—uncertain significance
rs134132180311:88,027,222A/G—likely benign
rs121465133711:88,027,225C/T—likely benign
rs77674339911:88,027,228A/G—likely benign
rs122431877611:88,027,229T/G—uncertain significance
rs77520189111:88,027,241C/T—uncertain significance
rs14618210311:88,027,242G/A—uncertain significance
rs37284774011:88,027,243G/A—likely benign
rs75678703411:88,027,246C/T—likely benign
rs14008688411:88,027,247C/T—uncertain significance
rs75435350711:88,027,248G/A—uncertain significance
rs75536020011:88,027,249G/C—uncertain significance
rs14373659011:88,027,252G/A—conflicting classifications of pathogenicity
rs155502577011:88,027,263C/A—likely pathogenic
rs14223239111:88,027,272C/T—uncertain significance
rs37180874711:88,027,273G/A—likely benign
rs19954724411:88,027,277C/T—uncertain significance
rs10489421511:88,027,279C/Gmissense variantpathogenic
rs88794295911:88,027,280C/T—pathogenic
rs18171211211:88,027,282G/A—likely benign
rs126089667611:88,027,286T/G—likely pathogenic
rs37628650011:88,027,294A/T—likely benign
rs77399393111:88,027,309C/T—likely benign
rs144654763411:88,027,311C/T—uncertain significance
rs89688115211:88,027,312A/T—likely benign
rs76125272211:88,027,317C/T—uncertain significance
rs122446945311:88,027,324A/G—likely benign
rs249652870511:88,027,327G/A—likely benign
rs2893757111:88,027,331T/Cmissense variantpathogenic
rs102929319111:88,027,339A/C—likely benign
rs138041402411:88,027,341G/C—uncertain significance
rs140138061711:88,027,344G/T—uncertain significance
rs20062702311:88,027,365C/T—uncertain significance
rs249652889411:88,027,369G/A—likely benign
rs20151983011:88,027,372G/C—uncertain significance
rs74896602511:88,027,373T/C—uncertain significance
rs194427310211:88,027,378A/C—likely benign
rs194427320511:88,027,387T/C—likely benign
rs77397776911:88,027,390A/G—likely benign
rs1759411:88,027,393A/C—benign
rs249652901111:88,027,397T/C—uncertain significance
rs249652902511:88,027,401G/A—uncertain significance
rs148242075211:88,027,405G/A—likely benign
rs249652903811:88,027,406A/G—uncertain significance
rs37647414311:88,027,407T/A—uncertain significance
rs1154574411:88,027,408C/A—likely benign
rs213476334511:88,027,417G/A—likely benign
rs4555873411:88,027,420G/A—likely benign
rs194427380711:88,027,421T/C—uncertain significance
rs155502579911:88,027,426G/A—likely benign
rs37005041711:88,027,441T/C—likely benign
rs88604873811:88,027,443C/T—uncertain significance
rs37436731311:88,027,445A/G—uncertain significance
rs76461372811:88,027,447A/T—likely benign
rs147971833611:88,027,462C/A—likely benign
rs194427438711:88,027,463C/T—uncertain significance
rs75179857411:88,027,469T/A—uncertain significance
rs119751557911:88,027,472A/G—uncertain significance
rs137238026111:88,027,482G/C—uncertain significance
rs249652934111:88,027,484T/G—uncertain significance
rs74930293511:88,027,499T/C—uncertain significance
rs77872396311:88,027,504G/A—likely benign
rs58777753211:88,027,510——pathogenic
rs74777974711:88,027,511T/C—uncertain significance
rs127814896011:88,027,513G/A—likely benign
rs58777665511:88,027,519——pathogenic
rs10489421111:88,027,526T/Cmissense variantpathogenic
rs135569731111:88,027,528G/A—conflicting classifications of pathogenicity
rs142211542311:88,027,533A/G—conflicting classifications of pathogenicity
rs249652969411:88,027,542A/C—uncertain significance
rs141182438111:88,027,546A/G—likely benign
rs249652971511:88,027,549A/G—likely benign
rs104470373311:88,027,551G/A—pathogenic
rs249652977511:88,027,555G/A—likely benign
rs249652978511:88,027,556C/T—uncertain significance
rs76355364111:88,027,559T/G—uncertain significance
rs76453007411:88,027,560C/T—uncertain significance
rs76229880011:88,027,568A/G—uncertain significance
rs94837054111:88,027,570T/C—likely benign
rs142569040111:88,027,571T/G—uncertain significance
rs76851939311:88,027,585A/C—likely benign
rs249652988211:88,027,587T/G—uncertain significance
rs136029338911:88,027,588G/A—likely benign
rs75066814311:88,027,591T/C—likely benign
rs249652991611:88,027,597G/C—likely benign
rs75613104811:88,027,598G/C—uncertain significance
rs88604873911:88,027,612T/C—conflicting classifications of pathogenicity
rs105700199611:88,027,613T/C—uncertain significance
rs249652994611:88,027,614C/T—uncertain significance

Showing 100 of 396 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.