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.
Some data sources returned errors (1)
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
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.
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.
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Links to major genomics databases and tools