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NMOAS
Chr 6ADDEAH-box helicase 16
Also known as: DBP2, DDX16, NMOAS, PRO2014, PRP8, PRPF2, Prp2
This protein is a DEAD box RNA helicase that functions in RNA secondary structure alterations including translation initiation, splicing, and ribosome assembly, and serves as a functional homolog of fission yeast Prp8 involved in cell cycle progression. Mutations cause neuromuscular disease and ocular or auditory anomalies with or without seizures, inherited in an autosomal dominant pattern. The phenotype involves multiple organ systems including the neuromuscular, visual, auditory, and central nervous systems.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NMOAS?content-type=application/json&expand=1
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NMOAS · 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 open access results found
External Resources
Links to major genomics databases and tools