SLC25A36
SLC25A36 Gene: Unraveling the Genetic Code
Description
The SLC25A36 gene, located on chromosome 21q22.3, provides instructions for making a protein called mitochondrial phosphate carrier. This protein is found in the inner membrane of mitochondria, the energy powerhouses of cells. Its primary function is to transport inorganic phosphate into the mitochondrial matrix, a crucial process for energy production through oxidative phosphorylation.
Associated Diseases
Mutations in the SLC25A36 gene have been linked to several disorders:
- Mitochondrial Myopathy: Characterized by progressive muscle weakness, fatigue, and impaired energy production.
- Leigh Syndrome: A severe neurodegenerative disorder that affects infants, causing developmental delays, seizures, and brain damage.
- Cardiomyopathy: A condition that weakens the heart muscle, leading to heart failure.
- Autism Spectrum Disorder (ASD): Although the exact role of SLC25A36 in ASD is not fully understood, some studies suggest an association between mutations in this gene and certain ASD symptoms.
Did you Know ?
Mutations in the SLC25A36 gene are estimated to affect approximately 1 in 50,000 individuals worldwide. This highlights the rarity of these disorders but underscores the importance of understanding their genetic basis for diagnosis and treatment.
