DISEASES

Disease-gene associations mined from literature

Literature associating SFXN1 and aceruloplasminemia

SFXN1 [ENSP00000316905]

Sideroflexin-1; Mitochondrial serine transporter that mediates transport of serine into mitochondria, an important step of the one-carbon metabolism pathway . Mitochondrial serine is converted to glycine and formate, which then exits to the cytosol where it is used to generate the charged folates that serve as one-carbon donors . Transports both D-serine and L-serine . Also able to transport other amino-acids, such as alanine . May be indirectly involved in the transport of a component required for iron utilization into or out of the mitochondria (By similarity); Belongs to the sideroflexin family.

Synonyms:  SFXN1,  SFXN1p,  hSFXN1,  D6RAE9,  D6RDG7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM