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.

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Description

What is the function of the SLC19A1 gene?

It encodes the reduced folate carrier (RFC1), a protein responsible for transporting folate into cells.

Why is folate transport important?

Proper transport ensures that cells receive sufficient folate to support DNA synthesis, methylation, and overall cellular function.

What happens if there is a variant in the SLC19A1 gene?

It can impair folate absorption at the cellular level, potentially leading to deficiency symptoms even with normal dietary intake.

What symptoms may be linked to impaired folate transport?

Fatigue, poor concentration, elevated homocysteine levels, and a heightened risk of neural tube defects or cardiovascular problems.

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Content
What is the function of the SLC19A1 gene?
Why is folate transport important?
What happens if there is a variant in the SLC19A1 gene?
What symptoms may be linked to impaired folate transport?
What is the function of the SLC19A1 gene?
Why is folate transport important?
What happens if there is a variant in the SLC19A1 gene?
What symptoms may be linked to impaired folate transport?
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