SLC29A3 : solute carrier family 29 member 3

Understanding the SLC29A3 Gene and Its Role in the Body

Description:

The SLC29A3 gene provides the instructions for creating equilibrative nucleoside transporter 3 (ENT3), a protein responsible for transporting nucleosides across cell membranes. Nucleosides are crucial building blocks for DNA, RNA, and energy-carrying molecules such as ATP and GTP. ENT3 ensures the availability of these essential molecules throughout the body by facilitating their transport into specific cell compartments.

Associated Diseases:

Mutations in the SLC29A3 gene have been linked to several rare genetic disorders, including:

• Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS): A disorder that affects the nervous system and muscles, causing episodes of stroke-like symptoms, muscle weakness, and fatigue.
• Leigh Syndrome: A severe neurological disorder that primarily affects infants and young children, leading to developmental delays, seizures, and muscle weakness.
• Fatal Infantile Mitochondrial Myopathy: A life-threatening disorder characterized by profound muscle weakness and respiratory failure.

Did you Know ?

Approximately 1 in 6,000 individuals worldwide carry a harmful mutation in the SLC29A3 gene, making it a relatively rare genetic condition. However, the impact of these mutations can be significant, highlighting the importance of early diagnosis and treatment.