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IDDHBA
Chr 13ADcyclin dependent kinase 8
Also known as: IDDHBA, K35
This gene encodes a cyclin-dependent kinase that regulates transcription by phosphorylating RNA polymerase II and components of the general transcription machinery as part of the Mediator complex. Autosomal dominant mutations cause intellectual developmental disorder with hypotonia and behavioral abnormalities. The phenotype involves neurodevelopmental impairment with motor and behavioral manifestations.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/IDDHBA?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
IDDHBA · 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