NDUFB8

Function

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

Involvement in disease

Mitochondrial complex I deficiency, nuclear type 32

MC1DN32

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. MC1DN32 transmission pattern is consistent with autosomal recessive inheritance.

None

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

Sequence similarities

Belongs to the complex I NDUFB8 subunit family.

Cellular localization

• Mitochondrion inner membrane
• Single-pass membrane protein
• Matrix side

Alternative names

• Complex I-ASHI
• NADH-ubiquinone oxidoreductase ASHI subunit
• CI-ASHI
• NDUFB8

Database links

• entrezGene:4714
• omim:602140
• swissprot:O95169

Target type

Proteins

Molecular weight

21766Da