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SCAX5
Chr XXLRSpinocerebellar ataxia, X-linked 5
The protein encoded by this gene functions in neuronal development and maintenance, though its specific molecular role is not fully characterized. Mutations cause X-linked recessive spinocerebellar ataxia type 5, a progressive neurological disorder primarily affecting coordination and balance due to cerebellar dysfunction. This condition typically manifests in affected males with cerebellar ataxia as the predominant clinical feature.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCAX5?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
SCAX5 · 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.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools