SLC25A15
SLC25A15 is a gene that encodes a protein responsible for transporting specific amino acids, particularly ornithine, across the inner mitochondrial membrane. This transport is crucial for various metabolic processes, including the urea cycle, which helps remove ammonia from the body.
Mutations in the SLC25A15 gene can lead to disorders such as hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome). This condition is characterized by elevated levels of ornithine and ammonia in the blood, which can cause neurological issues and other health problems. Understanding this gene is important for diagnosing and managing related metabolic disorders.