BOLA3 : bolA family member 3
Description
BOLA3, also known as ‘BOLA3 mitochondrial protein‘.It encodes a protein essential for the assembly and function of mitochondrial respiratory chain complex I, a vital component in energy production within cells. This complex plays a critical role in oxidative phosphorylation, a process that generates ATP, the primary energy source for cellular activities. Dysfunctional BOLA3 can lead to mitochondrial dysfunction, impacting cellular energy production and potentially contributing to a range of health issues.
Associated Diseases
- Leigh Syndrome
- Mitochondrial Complex I Deficiency
- Infantile Encephalopathy
- Hypertrophic Cardiomyopathy
- Neurodevelopmental Disorders
Did you know?
BOLA3 is highly conserved across species, suggesting its essential role in mitochondrial function.
