rs2478964054
This variant is located in the MTREX gene.
▶ClinVar annotation
About MTREX
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]
View all MTREX variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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