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SPG16
Chr XXLRspastic paraplegia 16 (complicated, X-linked recessive)
Also known as: SPG
The SPG16 gene encodes a protein involved in mitochondrial function and cellular energy metabolism. Mutations cause X-linked complicated spastic paraplegia 16, which presents with progressive spasticity of the lower limbs along with additional neurological features such as intellectual disability, seizures, and other complications. This condition follows X-linked recessive inheritance, primarily affecting males.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SPG16?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
SPG16 · 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