EXOSC5 Chromosome 19
Exosome component 5
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What This Gene Does
Predicted to enable RNA binding activity. Involved in DNA deamination; RNA processing; and mRNA catabolic process. Acts upstream of or within defense response to virus. Located in cytosol; euchromatin; and nuclear lumen. Part of exosome (RNase complex). [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Exosome complex
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000077348
Associated Conditions (3)
Cerebellar ataxia
brain abnormalities
and cardiac conduction defects
Key Variants
RS2123217925
Pathogenic
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
Health Risk
RS2123230774
Pathogenic
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
Health Risk
RS542429051
Pathogenic/Likely pathogenic
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
Health Risk
RS777418116
Pathogenic/Likely pathogenic
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2123217925 | Health Risk | Pathogenic | Cerebellar ataxia, brain abnormalities, and cardiac conduction defects |
| RS2123230774 | Health Risk | Pathogenic | Cerebellar ataxia, brain abnormalities, and cardiac conduction defects |
| RS542429051 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar ataxia, brain abnormalities, and cardiac conduction defects |
| RS777418116 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar ataxia, brain abnormalities, and cardiac conduction defects |