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 leading to reduced intracellular folate even when dietary levels are adequate. Such dysfunctions have been associated with developmental issues, fatigue, cognitive concerns, and elevated homocysteine levels.
It encodes the reduced folate carrier (RFC1), a protein that transports folate into cells.
Proper transport ensures that cells receive sufficient folate to support DNA synthesis, methylation, and overall cellular function.
It can hinder folate absorption at the cellular level, potentially causing deficiency symptoms even with normal dietary intake.
Fatigue, poor concentration, elevated homocysteine, and increased risk of neural tube defects or cardiovascular problems.