Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
combined oxidative phosphorylation deficiency 6
Summary
- Synonym
-
- COXPD6
- Mitochondrial encephalomyopathy due to COXPD6
- Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
- severe X-linked mitochondrial encephalomyopathy
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.
- Super Class
- X-linked recessive disease combined oxidative phosphorylation deficiency
External Links
- Disease Ontology
- DOID:0111502
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95831 | Apoptosis-inducing factor 1, mitochondrial |
