SFXN3
Description
The SFXN3 (sideroflexin 3) is a protein-coding gene located on chromosome 10.
SFXN3 is a mitochondrial protein that transports serine into mitochondria. This is a key step in the one-carbon metabolism pathway, where serine is converted to glycine and formate. These products then leave the mitochondria and enter the cytosol, where they are used to produce charged folates, which act as one-carbon donors.
SFXN3 is also known as BA108L7.2, SFX3, SLC56A3.
Associated Diseases
- hyperinsulinism due to INSR deficiency
- hyperinsulinism due to glucokinase deficiency
- exercise-induced hyperinsulinism
- cancer
- hyperinsulinemic hypoglycemia, familial, 4
- hyperinsulinemic hypoglycemia, familial, 1
- hyperinsulinemic hypoglycemia, familial, 2
- islet cell adenomatosis
- hyperinsulinism-hyperammonemia syndrome
- breast cancer