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).

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.

Belongs to the complex I subunit 4 family.

• Mitochondrion inner membrane
• Multi-pass membrane protein

MTND4, NADH4, ND4, MT-ND4, NADH-ubiquinone oxidoreductase chain 4, NADH dehydrogenase subunit 4

• entrezGene:4538
• omim:516003
• swissprot:P03905

Proteins

Metabolism

51581Da