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DFNX5
Chr XXLRapoptosis inducing factor mitochondria associated 1
Also known as: AIF, AUNX1, CMT2D, CMTX4, COWCK, COXPD6, DFNX5, NADMR
The protein is a flavoprotein located in the mitochondrial intermembrane space that is essential for nuclear disassembly during apoptosis and induces release of apoptogenic proteins including cytochrome c and caspase-9. Mutations cause X-linked recessive deafness (DFNX5), combined oxidative phosphorylation deficiency 6 (a severe mitochondrial encephalomyopathy), and Cowchock syndrome (X-linked Charcot-Marie-Tooth disease-4) characterized by neuropathy, motor-sensory defects, deafness, and cognitive disability. The inheritance pattern is X-linked recessive.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DFNX5?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DFNX5 · 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
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External Resources
Links to major genomics databases and tools