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NEDRSO
Chr 9ARsmall nuclear RNA activating complex polypeptide 4
Also known as: NEDRSO, PTFalpha, SNAP190
The protein is the largest subunit of the small nuclear RNA-activating protein (SNAP) complex and is essential for RNA polymerase II and III transcription from small nuclear RNA promoters. Biallelic mutations cause neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, inherited in an autosomal recessive pattern. This condition involves the central nervous system with prominent motor dysfunction and feeding difficulties.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDRSO?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
NEDRSO · 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 NEDRSO
External Resources
Links to major genomics databases and tools