CXORF38
Chr Xchromosome X open reading frame 38
CXORF38 encodes a mitochondrial protein of unknown function. Mutations cause neurodevelopmental disorder with epilepsy, microcephaly, and movement abnormalities, typically presenting in infancy with severe developmental delays. This X-linked gene is highly constrained against loss-of-function variants and primarily affects males, though carrier females may have milder symptoms.
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
CXORF38 · 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