MCFD2

Description

The MCFD2 gene provides instructions for making a protein that plays a crucial role in mitochondrial function. Mitochondria are the powerhouses of our cells, responsible for generating energy. The MCFD2 protein is involved in the assembly and maintenance of complex I, a key component of the electron transport chain within mitochondria. This chain is vital for ATP production, the energy currency of our cells. Mutations in the MCFD2 gene can disrupt this process, leading to a variety of health problems.

Associated Diseases

• Leigh syndrome
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
• Myoclonic epilepsy with ragged-red fibers (MERRF)
• NARP (Neuropathy, ataxia, and retinitis pigmentosa)
• Deafness

Did you know?

MCFD2 mutations are often associated with maternally inherited mitochondrial disorders, as mitochondria are primarily inherited from the mother.