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NEDHIB
Chr 17ADRNA polymerase II subunit A
Also known as: NEDHIB, POLR2, POLRA, RPB1, RPBh1, RPO2, RPOL2, RpIILS
The protein encoded by this gene is the largest subunit of RNA polymerase II, which synthesizes messenger RNA and contains essential heptapeptide repeats that undergo phosphorylation during active transcription. Mutations cause neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities with autosomal dominant inheritance. This condition primarily affects the nervous system and muscle tone from early development.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDHIB?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
NEDHIB · 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