RCCD1
Chr 15RCC1 domain containing 1
RCCD1 encodes a protein that regulates chromatin organization and transcriptional repression of satellite repeats, controls mitotic spindle organization and chromosome segregation, and modulates microtubule stability through alpha-tubulin deacetylation. Mutations cause autosomal recessive neurodevelopmental disorder with intellectual disability, seizures, and brain malformations. The gene shows extreme intolerance to loss-of-function mutations, indicating that complete protein loss is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RCCD1 · 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