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SPG34
Chr XXLRspastic paraplegia 34 (autosomal dominant)
SPG34 encodes a protein involved in intracellular membrane trafficking and organelle transport within neurons. Mutations cause X-linked spastic paraplegia 34, characterized by progressive spasticity and weakness primarily affecting the lower extremities. The condition follows X-linked recessive inheritance, typically affecting males with carrier females usually being asymptomatic or having mild symptoms.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SPG34?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
SPG34 · 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