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MIRAGE
nuclear type mitochondrial complex I deficiency 32
Summary
- Synonym
-
- MC1DN32
- Definition
- A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31.
- Super Class
- autosomal recessive disease nuclear type mitochondrial complex I deficiency
External Links
- Disease Ontology
- DOID:0112080
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95169 | NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial |
