SLC25A4 : solute carrier family 25 member 4

Description

SLC25A4, also known as the mitochondrial phosphate carrier (PiC), is a crucial transmembrane protein responsible for transporting inorganic phosphate (Pi) across the inner mitochondrial membrane. This transport is essential for numerous vital processes, including ATP synthesis, oxidative phosphorylation, and the regulation of mitochondrial pH. PiC plays a critical role in energy metabolism by facilitating the supply of Pi needed for ATP production. Mutations in the SLC25A4 gene can lead to various inherited metabolic disorders, highlighting the importance of this protein in maintaining cellular function.

Associated Diseases

• Phosphate-dependent gluconeogenesis deficiency (PGD)
• Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS)
• Leigh syndrome
• Myopathy with lactic acidosis
• Neurodevelopmental disorders

Did you know?

SLC25A4 is a highly conserved protein across species, suggesting its fundamental importance in cellular metabolism.