NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial

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:22499348). Essential for the catalytic activity and assembly of complex I (PubMed:22499348).

Mitochondrial complex I deficiency, nuclear type 2

MC1DN2

A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN2 inheritance is autosomal recessive.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the complex I 23 kDa subunit family.

Expressed in all tissues with the highest level in heart and skeletal muscle and the lowest level in lung.

• Mitochondrion inner membrane
• Peripheral membrane protein
• Matrix side

Complex I-23kD, NADH-ubiquinone oxidoreductase 23 kDa subunit, TYKY subunit, CI-23kD, NDUFS8

• entrezGene:4728
• omim:602141
• swissprot:O00217

Proteins

Metabolism

23705Da