Ensembl is currently experiencing issues
The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.
You can check Ensembl's status at status.ensembl.org
SPG3A
Chr 14ADspastic paraplegia 3A (autosomal dominant)
Also known as: AD-FSP, FSP1, SPG3
Atlastin-1 is a membrane-anchored GTPase that mediates GTP-dependent fusion of endoplasmic reticulum membranes, maintaining the continuous ER network and facilitating formation of three-way junctions where ER tubules intersect. Mutations cause spastic paraplegia 3A, an autosomal dominant hereditary spastic paraplegia that represents one of the most common early-onset forms of this condition. This gene has a GeneReviews entry, indicating established clinical guidelines are available for management.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SPG3A?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
SPG3A · 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
Nirogacestat in Patients With Kaposi Sarcoma
NOT YET RECRUITINGRegistry and Natural History Study for Early Onset Hereditary Spastic Paraplegia
RECRUITINGExternal Resources
Links to major genomics databases and tools