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