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SPG4
Chr 2ADspastin
Also known as: ADPSP, FSP2, SPG4
The protein is an ATP-dependent microtubule severing enzyme that cuts polyglutamylated microtubules and is critical for maintaining complex microtubule arrays in axons, cell division, and membrane trafficking between cellular compartments. Mutations cause spastic paraplegia 4, the most common form of autosomal dominant hereditary spastic paraplegia, which primarily affects the corticospinal tracts and lower extremities. This follows autosomal dominant inheritance with high penetrance but variable expressivity.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SPG4?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
SPG4 · 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
External Resources
Links to major genomics databases and tools