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SPG14
Chr 3ARspastic paraplegia 14 (autosomal recessive)
The protein encoded by this gene is involved in lipid metabolism and cellular membrane dynamics. Mutations cause spastic paraplegia 14, an autosomal recessive disorder characterized by progressive spasticity and weakness of the lower limbs. This form of hereditary spastic paraplegia typically presents in childhood or adolescence and primarily affects the motor system.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SPG14?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
SPG14 · 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