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combined oxidative phosphorylation deficiency 33
Summary
- Synonym
-
- COXPD33
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2.
- Super Class
- autosomal recessive disease combined oxidative phosphorylation deficiency
External Links
- Disease Ontology
- DOID:0111495
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q07021 | Complement component 1 Q subcomponent-binding protein, mitochondrial |
