SLC25A3

Description

SLC25A3, also known as the mitochondrial citrate transporter, plays a crucial role in cellular energy production. This gene encodes a protein that facilitates the exchange of citrate and malate across the mitochondrial inner membrane. This transport is essential for the citric acid cycle, a central pathway in cellular respiration, and for the synthesis of fatty acids and cholesterol. Mutations in SLC25A3 can disrupt these metabolic processes, leading to a range of health issues.

Associated Diseases

• Citrullinemia type I
• Hyperammonemia
• Mitochondrial dysfunction
• Neurological disorders
• Developmental delays

Did you know?

SLC25A3 is a member of a large family of mitochondrial solute carriers, each responsible for transporting different molecules across the mitochondrial membrane, highlighting the intricate complexity of mitochondrial metabolism.