SLC25A12
SLC25A12 is a gene that provides instructions for making a protein involved in transporting molecules across the inner membrane of mitochondria, the energy-producing structures in cells. This protein specifically helps transport aspartate and glutamate, which are important for various metabolic processes.
Mutations in the SLC25A12 gene can lead to a rare genetic disorder known as cerebral creatine deficiency syndrome. This condition can cause developmental delays, intellectual disability, and other neurological issues due to impaired energy metabolism in the brain. Understanding this gene is crucial for diagnosing and potentially treating related disorders.