BCS1L : BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

Description

The BCS1L gene provides instructions for making a protein called the 39 kDa subunit of complex I, a vital component of the mitochondrial electron transport chain (ETC). The ETC plays a crucial role in cellular energy production (ATP) through oxidative phosphorylation. This gene‘s mutations can disrupt the ETC‘s function, leading to a spectrum of severe, often fatal, metabolic disorders.

Associated Diseases

• Leigh syndrome
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
• Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MERRF)
• Kearns-Sayre syndrome
• NARP syndrome

Did you know?

Mutations in the BCS1L gene are often associated with a specific clinical phenotype, which can help in diagnosis.