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NEDSTO
Chr 1ARtenascin R
Also known as: NEDSTO, TN-R
This gene encodes a tenascin family extracellular matrix glycoprotein that is restricted to the central nervous system and functions in neurite outgrowth, neural cell adhesion, and modulation of sodium channel function as a constituent of perineuronal nets. Mutations cause a neurodevelopmental disorder with spasticity and transient opisthotonus that follows an autosomal recessive inheritance pattern. The disorder is nonprogressive, indicating that symptoms stabilize rather than worsen over time.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDSTO?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
NEDSTO · 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 publications found for NEDSTO
External Resources
Links to major genomics databases and tools