ATP5J2-PTCD1
ATP5J2-PTCD1: A Multifaceted Gene with Impact on Mitochondrial Health and Disease
Description:
ATP5J2-PTCD1 is a gene that encodes a protein complex consisting of two subunits: ATP5J2 and PTCD1. This complex plays a crucial role in the mitochondrial respiratory chain, specifically at complex I. Complex I is responsible for transferring electrons from NADH to ubiquinone, generating a proton gradient that drives ATP synthesis.
Associated Diseases:
Mutations in the ATP5J2-PTCD1 gene have been linked to a spectrum of mitochondrial diseases, including:
- Leigh syndrome: A severe neurodegenerative disorder characterized by developmental delay, hypotonia, and lactic acidosis.
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A condition marked by seizures, strokes, and muscle weakness.
- Leber's hereditary optic neuropathy (LHON): A genetic condition that leads to sudden and severe vision loss in young adults.
Did you Know ?
Approximately 1 in 50,000 individuals is affected by a mitochondrial disease linked to ATP5J2-PTCD1 mutations.
