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SPG20
Chr 13ARspartin
Also known as: SPG20, TAHCCP1
The protein encoded by this gene is a lipophagy receptor that regulates lipid droplet turnover in motor neurons and participates in endosomal trafficking and cytokinesis. Mutations cause Troyer syndrome, an autosomal recessive spastic paraplegia characterized by progressive spasticity primarily affecting the lower limbs. This condition typically presents in childhood and represents a form of hereditary spastic paraplegia with additional neurological features.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SPG20?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
SPG20 · 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 →External Resources
Links to major genomics databases and tools