DCX
Chr XX-linkeddoublecortin
The protein regulates microtubule organization and stability to direct neuronal migration during cortical development, interacting with LIS1 for proper microtubule function. Mutations cause X-linked inheritance disorders with sex-specific phenotypes: lissencephaly in males and subcortical band heterotopia (double cortex syndrome) in females, both associated with epilepsy and cognitive disability. The pathogenic mechanism involves disrupted neuronal migration and abnormal cortical layering due to impaired microtubule function.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DCX · 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
External Resources
Links to major genomics databases and tools