NDUFC2 Chromosome 11

NADH:ubiquinone oxidoreductase subunit C2

2 variants 2 Health Risk

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What This Gene Does

Predicted to enable NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial inner membrane. Part of respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

NADH:ubiquinone oxidoreductase supernumerary subunits

Locus Type

gene with protein product

Location

11q14.1

Ensembl

ENSG00000151366

Associated Conditions (3)

Mitochondrial disease

Mitochondrial complex I deficiency

nuclear type 36

Key Variants

RS1858924087

Pathogenic

Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 36

Health Risk

RS1859088426

Pathogenic

Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 36

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS1858924087	Health Risk	Pathogenic	Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 36
RS1859088426	Health Risk	Pathogenic	Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 36