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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
mitochondrial complex IV deficiency nuclear type 1
Summary
- Synonym
-
- MC4DN1
- Definition
- A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2.
- Super Class
- COX deficiency, benign infantile mitochondrial myopathy autosomal recessive disease
External Links
- Disease Ontology
- DOID:0070491
- UMLS
- NCI Thesaurus
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15526 | Surfeit locus protein 1 |
