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SPDRS
Chr 2ARST3 beta-galactoside alpha-2,3-sialyltransferase 5
Also known as: SATI, SIAT9, SIATGM3S, SPDRS, ST3Gal V, ST3GalV
The protein encoded by this gene is a glycosyltransferase that catalyzes the formation of ganglioside GM3 from lactosylceramide, functioning in cell differentiation, proliferation control, and signal transduction. Mutations cause salt and pepper developmental regression syndrome, an infantile-onset condition affecting neurological development. This follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SPDRS?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
SPDRS · 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