SLC19A2
Description
The SLC19A2 gene, also known as the reduced folate carrier 1 (RFC1) gene, plays a crucial role in cellular metabolism by transporting folate, a vital B vitamin, across cell membranes. Folate is essential for various metabolic processes, including DNA synthesis, cell division, and the production of neurotransmitters. The SLC19A2 gene encodes a protein that acts as a carrier for folate, facilitating its entry into cells. This intricate process ensures that cells have a sufficient supply of folate to carry out their essential functions.
Associated Diseases
- Neural Tube Defects (NTDs): Deficiencies in folate during pregnancy can lead to NTDs, such as spina bifida and anencephaly.
- Megaloblastic Anemia: A condition characterized by the production of abnormally large, immature red blood cells, often caused by folate deficiency.
- Cardiovascular Disease: Studies suggest a potential association between SLC19A2 gene variants and an increased risk of cardiovascular disease.
Did you know?
The SLC19A2 gene is highly expressed in the brain, highlighting the crucial role of folate in neurodevelopment.
