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SCAR25
Chr 6ARautophagy related 5
Also known as: APG5, APG5-LIKE, APG5L, ASP, SCAR25, hAPG5
The encoded protein functions as an E1-like activating enzyme in combination with autophagy protein 12, playing critical roles in autophagic vesicle formation, mitochondrial quality control, immune regulation, and lymphocyte development. Mutations cause autosomal recessive spinocerebellar ataxia (SCAR25), affecting the cerebellum and resulting in progressive ataxia. This 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/SCAR25?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
SCAR25 · 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