EXOSC8 Chromosome 13
Exosome component 8
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What This Gene Does
This gene encodes a 3'-5' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation of numerous RNA species. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
Exosome complex
Locus Type
gene with protein product
Location
13q13.3
Ensembl
ENSG00000120699
Associated Conditions (3)
Pontocerebellar hypoplasia
type 1C
Spastic ataxia
Key Variants
RS200881798
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia, type 1C, Pontocerebellar hypoplasia
Health Risk
RS36027220
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia, type 1C, Pontocerebellar hypoplasia
Health Risk
RS764339075
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia, type 1C, Pontocerebellar hypoplasia
Health Risk
RS773616244
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia, type 1C, Pontocerebellar hypoplasia
Health Risk
RS606231285
Pathogenic
Pontocerebellar hypoplasia, type 1C, Pontocerebellar hypoplasia
Health Risk
RS749829526
Pathogenic
Spastic ataxia, Spastic ataxia
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200881798 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia, type 1C, Pontocerebellar hypoplasia |
| RS36027220 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia, type 1C, Pontocerebellar hypoplasia |
| RS764339075 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia, type 1C, Pontocerebellar hypoplasia |
| RS773616244 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia, type 1C, Pontocerebellar hypoplasia |
| RS606231285 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 1C, Pontocerebellar hypoplasia |
| RS749829526 | Health Risk | Pathogenic | Spastic ataxia, Spastic ataxia |