NDUFAF4

NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4) is a protein that in humans is encoded by the NDUFAF4 gene. It is a member of the Complex I assembly factors, which are involved in the assembly of the mitochondrial respiratory chain Complex I.

Function

NDUFAF4 is a chaperone protein that assists in the assembly of Complex I. It is involved in the early stages of Complex I assembly and is necessary for the incorporation of the ND1 subunit into the complex. Mutations in the NDUFAF4 gene can lead to Complex I deficiency, a type of mitochondrial disease.

Clinical significance

Mutations in the NDUFAF4 gene have been associated with Leigh syndrome, a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure.

See also

• Mitochondrial diseases
• Leigh syndrome
• Complex I

External links

• NCBI Gene
• UniProt