NDUFAF1

Description

The NDUFAF1 gene provides instructions for making a protein called assembly factor 1 for NADH dehydrogenase. This protein is essential for the assembly and function of complex I, a crucial component of the electron transport chain within mitochondria. Complex I plays a vital role in cellular respiration, generating energy (ATP) for various cellular processes. Mutations in NDUFAF1 can disrupt the assembly of complex I, leading to mitochondrial dysfunction.

Associated Diseases

• Leigh syndrome
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
• Mitochondrial myopathy
• Neurodegenerative disorders

Did you know?

Mutations in NDUFAF1 are known to be particularly prevalent in certain ethnic populations, such as the Amish community.