Sideroflexin-1 (SFXN1)

Sideroflexin-1 (SFXN1) is a multipass inner mitochondrial membrane protein that primarily functions as a transporter for serine and other small amino acids into mitochondria. This transport is critical for mitochondrial one-carbon metabolism, supporting nucleotide synthesis, amino acid metabolism, DNA methylation, and heme biosynthesis. SFXN1 is essential for cellular proliferation, mitochondrial DNA maintenance, and the integrity of the respiratory chain complex III. Human mutations in SFXN1 are associated with anemia, specifically sideroblastic anemia, due to impaired heme biosynthesis. SFXN1 is expressed in many tissues, with particularly high levels in organs with active metabolism (blood, liver, kidney), and may play a role in cancer cell growth due to its metabolic functions. As of now, there are no clinically approved drugs targeting SFXN1, but its central role in cell metabolism makes it a potential subject for therapeutic modulation in relevant diseases.

Other names

SFXN1Sideroflexin 1SLC56A1FLJ12876TCCtricarboxylate carrier proteinsideroflexin-1

Not applicable (no drugs reported to directly target SFXN1); theorized mechanisms could involve modulation of mitochondrial serine uptake or one-carbon metabolism for future therapeutic strategies.