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CABAC
Chr 19ARexosome component 5
Also known as: CABAC, RRP41B, RRP46, Rrp46p, hRrp46p, p12B
The CABAC protein binds RNA and functions as part of the exosome RNase complex involved in RNA processing and mRNA degradation. Autosomal recessive mutations cause cerebellar ataxia with brain abnormalities and cardiac conduction defects. This multisystem disorder affects the cerebellum, brain development, and cardiac electrical conduction system.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CABAC?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CABAC · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
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Links to major genomics databases and tools