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.
