MYCBP
Chr 1MYC binding protein
The protein binds to and enhances the transcriptional activity of the oncogenic protein C-MYC, translocating to the nucleus during S phase of the cell cycle to activate E box-dependent transcription. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in early infancy. The gene is highly constrained against loss-of-function variants, indicating essential developmental functions.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MYCBP · 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 →External Resources
Links to major genomics databases and tools