MT-ND4

Chr mitochondria

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

Aliases:: ND4, NAD4

OMIM: 516003 ↗NCBI: 4538 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MT-ND4 · C0HME5

Mean pLDDT

Not published

AlphaFold has not published a prediction for this sequence. This is common for very long proteins.

Confidence breakdown

Check AlphaFold DB

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
MITOCHONDRIAL
Mitochondrial disorders
MITOCHONDRIAL
Optic neuropathy
MITOCHONDRIAL
Undiagnosed metabolic disorders
MITOCHONDRIAL
Intellectual disability
MITOCHONDRIAL
Retinal disorders
MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder
MITOCHONDRIAL

Disease associations (Open Targets)

Leber hereditary optic neuropathy
0.73
MELAS syndrome
0.72
mitochondrial disease
0.67
MELAS
0.64
type 2 diabetes mellitus
0.61
mitochondrial complex I deficiency
0.59
diabetes mellitus
0.58
Leber plus disease
0.55
Leigh syndrome
0.54
Isolated cytochrome C oxidase deficiency
0.51

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

NADH-ubiquinone oxidoreductase chain 4

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:15250827, PubMed:8344246, PubMed:8644732). Essential for the catalytic activity and assembly of complex I (PubMed:15250827, PubMed:8344246, PubMed:8644732)

Curated MONDO disease pages that list MT-ND4 among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with MT-ND4