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SEMDHL
Chr XXLRapoptosis inducing factor mitochondria associated 1
Also known as: AIF, AUNX1, CMT2D, CMTX4, COWCK, COXPD6, DFNX5, NADMR
This gene encodes a flavoprotein that functions in apoptotic nuclear disassembly and induces mitochondrial release of cytochrome c and caspase-9. Mutations cause X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy, affecting skeletal development and white matter of the brain. The condition follows X-linked recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SEMDHL?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
SEMDHL · 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 →No open access results found
External Resources
Links to major genomics databases and tools