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NEDSVH
Chr 1ADchaperonin containing TCP1 subunit 3
Also known as: CCT-gamma, CCTG, NEDSVH, PIG48, TCP-1-gamma, TRIC5
The protein encoded by NEDSVH is a molecular chaperone within the CCT/TRiC complex that folds cytoskeletal proteins including actin and tubulin in an ATP-dependent manner. Mutations cause neurodevelopmental disorder with speech or visual impairment and brain hypomyelination with autosomal dominant inheritance. This condition affects multiple systems including cognition, communication, vision, and white matter development.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDSVH?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
NEDSVH · 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 NEDSVH
External Resources
Links to major genomics databases and tools