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SPG6
Chr 15ADspastic paraplegia 6 (autosomal dominant)
Also known as: FSP3
The protein functions as a magnesium transporter, with the ability to transport other divalent cations including iron, strontium, barium, zinc, and cobalt to a lesser extent. Mutations cause spastic paraplegia 6, a neurodegenerative disorder primarily affecting the corticospinal tracts and resulting in progressive lower limb spasticity and weakness. The condition follows an autosomal dominant inheritance pattern.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SPG6?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
SPG6 · 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