SLC19A1
The SLC19A1 gene encodes the reduced folate carrier 1 (RFC1), a key transporter responsible for moving folate and folate derivatives into cells. This transport system is essential for cellular uptake of folate, which is necessary for DNA synthesis, repair, methylation processes, and red blood cell production. Variants in this gene may impair folate transport, potentially resulting in reduced intracellular folate levels even when dietary intake is adequate. Such dysfunctions have been associated with developmental problems, fatigue, cognitive issues, and increased homocysteine levels.
Description
It encodes the reduced folate carrier (RFC1), a protein responsible for transporting folate into cells.
Proper transport ensures that cells receive sufficient folate to support DNA synthesis, methylation, and overall cellular function.
It can impair folate absorption at the cellular level, potentially leading to deficiency symptoms even with normal dietary intake.
Fatigue, poor concentration, elevated homocysteine levels, and a heightened risk of neural tube defects or cardiovascular problems.
