EXOSC1 Chromosome 10
Exosome component 1
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What This Gene Does
This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Exosome complex
Locus Type
gene with protein product
Location
10q24.1
Ensembl
ENSG00000171311
Associated Conditions (2)
Pontocerebellar hypoplasia
type 1F
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2133168246 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 1F, Pontocerebellar hypoplasia |