SFXN1
Description
The SFXN1 (sideroflexin 1) is a protein-coding gene located on chromosome 5.
Sideroflexin-1 is a protein encoded by the SFXN1 gene in humans. This protein has been identified by Nora Kory et al. as having mitochondrial serine transporter activity.
Sideroflexin-1 is a mitochondrial amino acid transporter that primarily imports serine, a key substrate for the mitochondrial one-carbon pathway. Once inside the mitochondria, serine is converted into glycine and formate, which are then exported to the cytosol. In the cytosol, these molecules contribute to the generation of charged folates, essential one-carbon donors. Sideroflexin-1 may also transport additional amino acids, including alanine and cysteine.
SFXN1 is also known as SLC56A1, TCC.
Associated Diseases
- refractive error
- breast cancer
- cancer
- thrombocythemia 2
- familial isolated congenital asplenia
- diabetes mellitus, permanent neonatal 4
- diabetes mellitus, transient neonatal, 3
- thrombocytopenia 4
- glycogen storage disorder due to hepatic glycogen synthase deficiency
