MT-ND3

Chr MT

NADH dehydrogenase subunit 3

Also known as: MTND3

NCBI Gene: 4537 ENSG00000198840 UniProt: P03897 OMIM: 516002

This gene encodes a core subunit of NADH:ubiquinone oxidoreductase (Complex I) in the mitochondrial respiratory chain, which transfers electrons from NADH to ubiquinone during oxidative phosphorylation. Mutations cause Leigh syndrome and Complex I deficiency, with clinical severity depending on the degree of heteroplasmy. Inheritance follows a maternal pattern due to its location in the mitochondrial genome.

GeneReviews OMIM ResearchSummary from Curated mito context

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeigh syndrome

UniProtMitochondrial complex I deficiency, mitochondrial type 1

Clinical highlights

Gene–disease validity (ClinGen)

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

📖

GeneReview available — MT-ND3

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Nuclear-gene analyses omitted

MT-ND3 is a mitochondrial protein-coding gene. gnomAD constraint, carrier burden and exome coverage, the ClinVar type breakdown, AlphaFold and transcript-architecture views are built for nuclear genes and are not shown. Population data for mtDNA variants (gnomAD v3.1, homoplasmy and heteroplasmy) is on each variant page.

Where it sits in the mitochondrial genome

Tap or hover a gene, landmark or tick; genes open their page, ticks their variant.

proteinrRNAtRNAouter ring H-strand · inner L-strandMITOMAP confirmedreported (as of 2026-10-07)

37 genes from Ensembl (rCRS numbering, matched to MITOMAP’s Gene Loci); landmarks and disease alleles from MITOMAP (CC BY 3.0). Circular layout after MitoWheel.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MT-ND3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

MITOMAP Disease Variants — MT-ND3

Live table ↗

Variant	AA	Disease	Status	GenBank seqs
m.10086A>G	N10D	Hypertensive end-stage renal disease	Reported	556
m.10134C>A	Q26K	Leigh Disease	Uncertain significance · reported	0
m.10142C>T	N28N	Recurrent pregnancy loss	Reported	735
m.10158T>C	S34P	Leigh Disease / MELAS / mito encephalomyopathy	Pathogenic · confirmed	0
m.10189T>C	M44T	Behavior alteration with dilated cardiomyopathy	Reported	1
m.10191T>C	S45P	Leigh Disease / ESOC	Pathogenic · confirmed	0
m.10197G>A	A47T	Leigh Disease / Dystonia / Stroke / LDYT	Pathogenic · confirmed	3
m.10197G>C	A47P	Leigh Disease	Reported	0
m.10237T>C	I60T	LHON	Reported	108
m.10254G>A	D66N	Leigh Disease	Likely pathogenic · confirmed	0
m.10350C>A	L98M	LHON	Reported	0
m.10372A>G	E105G	Sensorimotor axonal polyneuropathy	Reported	0
m.10398A>A	T114T	Invasive Breast Cancer risk factor AD PD BD lithium response Type 2 DM	Reported	37,335
m.10398A>G	T114A	PD protective factor / longevity / altered cell pH / metabolic syndrome / hypothyroidism / breast cancer risk / Leigh Syndrome risk / ADHD / cognitive decline / SCA2 age of onset / Fuchs endothelial corneal dystrophy	Reported	29,433