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SCAR4
Chr 1ARvacuolar protein sorting 13 homolog D
Also known as: BLTP5D, SCA24, SCAR4, SCASI
This gene encodes a protein belonging to the vacuolar-protein-sorting-13 family that is involved in trafficking membrane proteins between the trans-Golgi network and prevacuolar compartments. Mutations cause spinocerebellar ataxia, autosomal recessive 4, which primarily affects the cerebellum and causes progressive ataxia. The condition follows an autosomal recessive inheritance pattern.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCAR4?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
SCAR4 · 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