SLC25A33
The SLC25A33 Gene: Delving into Its Role in Health and Disease
Description of the SLC25A33 Gene
The SLC25A33 gene holds the blueprint for the SLC25A33 protein transporter, a crucial component of mitochondrial metabolism. It belongs to the solute carrier family 25 and is located on chromosome 12q24.31. This gene encodes a mitochondrial inner membrane protein that facilitates the transport of citrate, an essential metabolite in the Krebs cycle.
Associated Diseases
Mutations in the SLC25A33 gene have been linked to several diseases, including:
- Leigh Syndrome: A severe neurological disorder characterized by impaired brain function, developmental delays, and mitochondrial dysfunction.
- Isolated Complex V Deficiency: A rare condition caused by a defect in mitochondrial complex V, leading to reduced energy production and muscle weakness.
- Retinitis Pigmentosa: A group of inherited eye disorders that cause progressive vision loss and night blindness.
- NARP Syndrome: A neurodegenerative disorder characterized by nerve damage, intellectual disability, and seizures.
Did you Know ?
Research suggests that mutations in the SLC25A33 gene account for approximately 2-5% of cases of Leigh Syndrome, highlighting the gene‘s significant impact on this condition.
