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SLC19A1
The SLC19A1 gene encodes the reduced folate carrier 1 (RFC1), an essential transporter responsible for the uptake of folate and its derivatives into cells. This transport mechanism is crucial for cellular absorption of folate, which is necessary for DNA synthesis, repair, methylation processes, and the formation of red blood cells. Variations in this gene may hinder folate transport, potentially causing reduced intracellular folate despite adequate dietary intake. Such impairments have been associated with developmental disorders, fatigue, cognitive difficulties, and increased homocysteine levels.
Description
What is the function of the SLC19A1 gene?
It encodes the reduced folate carrier (RFC1), a protein that transports folate into cells.
Why is folate transport significant?
Proper transport ensures that cells receive sufficient folate to support DNA synthesis, methylation, and overall cellular function.
What occurs if there is a variant in the SLC19A1 gene?
It can hinder folate absorption at the cellular level, potentially causing deficiency symptoms despite normal dietary intake.
What symptoms can be associated with impaired folate transport?
Fatigue, poor concentration, elevated homocysteine, and increased risk of neural tube defects or cardiovascular issues.
