nuclear type mitochondrial complex I deficiency 22

Summary
Synonym
  • MC1DN22
Definition
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3.
Super Class
autosomal recessive disease nuclear type mitochondrial complex I deficiency
Disease Ontology
DOID:0112069
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
316632 Ndufa10l1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex 10-like 1
678759 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024