SLC25A35
SLC25A35 Gene: The Mitochondrial Transporter with Diverse Roles
Description
The SLC25A35 gene, also known as solute carrier family 25, member 35, encodes a mitochondrial carrier protein responsible for transporting ornithine and other amino acids across the inner mitochondrial membrane. It is essential for maintaining mitochondrial energy production and cell metabolism.
Associated Diseases
Mutations in the SLC25A35 gene have been linked to several diseases:
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome: A rare genetic disorder characterized by elevated levels of ornithine, ammonia, and homocitrullin in the blood and urine.
- Leigh Syndrome: A severe neurodegenerative disorder in infants and children that affects brain development and function.
- Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS): A chronic mitochondrial disorder characterized by muscle weakness, seizures, and stroke-like episodes.
Did you Know ?
Approximately 1 in 50,000 people worldwide are estimated to carry a mutation in the SLC25A35 gene, making it a relatively common cause of mitochondrial disorders.
