NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10

Accessory subunit that is involved in the functional assembly of the mitochondrial respiratory chain complex I. Complex I has an NADH dehydrogenase activity with ubiquinone as an immediate electron acceptor and mediates the transfer of electrons from NADH to the respiratory chain.

Mitochondrial complex I deficiency, nuclear type 35

MC1DN35

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. MC1DN35 transmission pattern is consistent with autosomal recessive inheritance.

None

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

The formation of intramolecular disulfide bonds is assisted by CHCHD4 and ensures folding, import into the mitochondrion and is required for the function in mitochondrial respiratory chain complex I assembly.

Belongs to the complex I NDUFB10 subunit family.

• Mitochondrion inner membrane
• Peripheral membrane protein
• Matrix side

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10, Complex I-PDSW, NADH-ubiquinone oxidoreductase PDSW subunit, CI-PDSW, NDUFB10

• entrezGene:4716
• omim:603843
• swissprot:O96000

Proteins

Metabolism

20777Da