MTREX

Mtr4 exosome RNA helicase

Summary

Enables ATP binding activity and RNA helicase activity. Involved in DNA damage response; RNA catabolic process; and maturation of 5.8S rRNA. Located in nuclear exosome (RNase complex) and nucleoplasm. Part of TRAMP complex and catalytic step 2 spliceosome. Biomarker of amyotrophic lateral sclerosis. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants49 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3734763455:54,603,873G/A—uncertain significance
rs1819751115:54,603,884G/A—likely benign
rs168840495:54,603,898T/G—benign
rs24788808995:54,603,950C/A—uncertain significance
rs5641044165:54,603,960C/T—uncertain significance
rs13319269515:54,618,189A/G—uncertain significance
rs3761189015:54,618,192A/C—uncertain significance
rs24789179535:54,618,259C/T—uncertain significance
rs7626769685:54,619,964G/A—uncertain significance
rs24789236235:54,619,968A/G—uncertain significance
rs7505121655:54,619,998T/G—uncertain significance
rs12563199035:54,637,557G/C—uncertain significance
rs7777468525:54,639,233A/G—uncertain significance
rs7475218855:54,639,246G/A—uncertain significance
rs24789640435:54,639,267G/T—uncertain significance
rs11734041175:54,639,276A/G—uncertain significance
rs24789640545:54,639,278A/G—uncertain significance
rs7703904805:54,641,007G/A—uncertain significance
rs7552530715:54,642,871T/G—uncertain significance
rs24789718985:54,642,877T/C—uncertain significance
rs24789765105:54,645,415A/G—uncertain significance
rs7652848405:54,645,433A/G—uncertain significance
rs1443345705:54,645,457G/A—uncertain significance
rs1487838025:54,646,772A/G—uncertain significance
rs1415233395:54,649,046A/G—likely benign
rs5594250715:54,651,417G/A——
rs14392456515:54,654,473A/G—uncertain significance
rs15798733735:54,662,674A/G—uncertain significance
rs1431360465:54,674,235A/G—uncertain significance
rs1391825995:54,674,963T/C—likely benign
rs1440654555:54,674,967G/A—uncertain significance
rs7542971005:54,674,970G/T—uncertain significance
rs17505052855:54,683,803C/G—uncertain significance
rs14410655805:54,683,847C/A—uncertain significance
rs7574823945:54,693,314G/A—uncertain significance
rs7561968495:54,693,319G/A—uncertain significance
rs7554942985:54,696,067C/G—uncertain significance
rs1147713895:54,696,126A/G—benign
rs24790816855:54,696,140A/G—uncertain significance
rs1470326485:54,696,199A/T—uncertain significance
rs1438713025:54,696,224A/G—uncertain significance
rs2002556255:54,701,332G/A—uncertain significance
rs9777359005:54,706,443G/C—uncertain significance
rs24791074685:54,710,022C/T—uncertain significance
rs15799040515:54,711,808A/C—uncertain significance
rs15799040555:54,711,814T/C—uncertain significance
rs7538472855:54,711,950T/A—uncertain significance
rs2015550465:54,718,793A/C—uncertain significance
rs7615961875:54,720,570T/G—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.