MT-ND6
Function
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:14595656, PubMed:8644732). Essential for the catalytic activity and assembly of complex I (PubMed:14595656, PubMed:8644732).
Involvement in disease
Leber hereditary optic neuropathy
LHON
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
None
The disease is caused by variants affecting the gene represented in this entry.
Leber hereditary optic neuropathy with dystonia
LDYT
A form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. LDYT is characterized by the association of optic atrophy and central vision loss with dystonia.
None
The disease is caused by variants affecting the gene represented in this entry.
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome
MELAS
Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness.
None
The disease is caused by variants affecting the gene represented in this entry.
Leigh syndrome
LS
An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the complex I subunit 6 family.
Cellular localization
- Mitochondrion inner membrane
- Multi-pass membrane protein
Alternative names
MTND6, NADH6, ND6, MT-ND6, NADH-ubiquinone oxidoreductase chain 6, NADH dehydrogenase subunit 6