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GD3
Chr XARGraves disease, susceptibility to, X-linked
Also known as: GD3
Glucocerebrosidase breaks down the lipid glucocerebroside within lysosomes. Mutations cause Gaucher disease type III, a neuronopathic form with chronic neurological involvement including seizures, developmental delay, and progressive neurodegeneration typically beginning in childhood. Inheritance is autosomal recessive.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/GD3?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
GD3 · 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