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SCAR15
Chr 3ARrubicon autophagy regulator
Also known as: KIAA0226, RUBICON, SCAR15
The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking that controls endosome maturation through its RUN domain (involved in Ras-like GTPase signaling) and DUF4206 domain (containing a diacylglycerol binding-like motif). Mutations cause autosomal recessive spinocerebellar ataxia 15, which primarily affects the cerebellum and results in progressive coordination difficulties. This follows autosomal recessive inheritance, requiring mutations in both gene copies for disease manifestation.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCAR15?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
SCAR15 · 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 open access results found
External Resources
Links to major genomics databases and tools