NDUFS1

Description

The NDUFS1 gene provides instructions for creating a protein that plays a crucial role in the electron transport chain, a key process for cellular respiration. This chain is responsible for generating energy (ATP) from food, which is essential for all cellular functions. The NDUFS1 protein is a subunit of NADH dehydrogenase, also known as complex I, the first and largest enzyme complex in the electron transport chain. Mutations in NDUFS1 can disrupt the function of complex I, leading to impaired energy production and a variety of health problems.

Associated Diseases

• Leigh syndrome
• Mitochondrial encephalomyopathy
• Complex I deficiency
• Infantile mitochondrial myopathy
• Hypertrophic cardiomyopathy
• Neurodegenerative disorders

Did you know?

NDUFS1 is one of the largest genes in the human genome, spanning over 130,000 base pairs.