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SCAR34
Chr 8ARcarbonic anhydrase 8 (inactive)
Also known as: CA-RP, CA-VIII, CALS, CAMRQ3, CARP, SCAR34
CA8 encodes a catalytically inactive carbonic anhydrase that lacks the ability to reversibly hydrate carbon dioxide but appears to play an important role in cerebellar function. Mutations cause spinocerebellar ataxia, autosomal recessive 34, characterized by cerebellar dysfunction affecting movement coordination and balance. This condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCAR34?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
SCAR34 · 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
No active trials found for this gene.
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External Resources
Links to major genomics databases and tools