NDUFS6

Description

NDUFS6 is a gene encoding a crucial protein involved in the electron transport chain (ETC), a vital process occurring within mitochondria. The ETC is responsible for generating ATP, the primary energy source for cells. NDUFS6 protein is a subunit of NADH dehydrogenase (Complex I), the first enzyme in the ETC. It plays a critical role in electron transfer, ensuring the proper function of Complex I and subsequent energy production. Mutations in NDUFS6 can disrupt this process, leading to various diseases characterized by mitochondrial dysfunction.

Associated Diseases

• Leigh Syndrome
• Mitochondrial Encephalomyopathy
• Complex I Deficiency
• Neurodegenerative Disorders
• Myopathies

Did you know?

Mutations in NDUFS6 can cause a wide range of clinical symptoms, from severe infantile onset to milder adult-onset disorders.