MT-ND3 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3) — Gene

What This Gene Does

Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone. Located in mitochondrial inner membrane. Part of respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Leigh disease; and Parkinson's disease. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

"NADH:ubiquinone oxidoreductase core subunits|Mitochondrially encoded protein coding genes"

Locus Type

gene with protein product

Location

mitochondria

Ensembl

ENSG00000198840

Associated Conditions (11)

Leigh syndrome

Mitochondrial disease

Mitochondrial complex I deficiency

mitochondrial type 1

Primary mitochondrial disorders

Leber optic atrophy and dystonia

Mitochondrial DNA-Associated Leigh Syndrome and NARP

See cases

Mitochondrial myopathy

episodic

with optic atrophy and reversible leukoencephalopathy

Key Variants

RS587776438

Likely pathogenic

Leigh syndrome, Mitochondrial disease, Leigh syndrome

Health Risk

RS199476117

Pathogenic

Mitochondrial complex I deficiency, mitochondrial type 1, Leigh syndrome

Health Risk

RS267606890

Pathogenic

Mitochondrial complex I deficiency, mitochondrial type 1, Leigh syndrome

Health Risk

RS267606891

Pathogenic

Leber optic atrophy and dystonia, Mitochondrial complex I deficiency, mitochondrial type 1

Health Risk

All Variants (4)

RSID	Category	Clinical Significance	Conditions
RS587776438	Health Risk	Likely pathogenic	Leigh syndrome, Mitochondrial disease, Leigh syndrome
RS199476117	Health Risk	Pathogenic	Mitochondrial complex I deficiency, mitochondrial type 1, Leigh syndrome
RS267606890	Health Risk	Pathogenic	Mitochondrial complex I deficiency, mitochondrial type 1, Leigh syndrome
RS267606891	Health Risk	Pathogenic	Leber optic atrophy and dystonia, Mitochondrial complex I deficiency, mitochondrial type 1

MT-ND3 Chromosome MT