PREPL
Description
The PREPL gene (Pre-B Cell Leukemia Transcription Factor-Like) plays a crucial role in mitochondrial function, particularly in the process of oxidative phosphorylation. It encodes a protein that interacts with mitochondrial DNA (mtDNA) and is essential for maintaining the stability and integrity of the mitochondrial genome. This gene‘s activity is critical for cellular energy production, and disruptions in its function can lead to various health problems.
Associated Diseases
- Mitochondrial DNA depletion syndrome (MDDS)
- Leigh syndrome
- Alpers-Huttenlocher syndrome
- Cardiomyopathy
- Neurological disorders
- Developmental delays
Did you know?
Mutations in the PREPL gene are often associated with a specific type of mitochondrial DNA depletion syndrome characterized by severe lactic acidosis, a buildup of lactic acid in the blood.
