Aliases for SFXN4 Gene
External Ids for SFXN4 Gene
Previous GeneCards Identifiers for SFXN4 Gene
This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014]
GeneCards Summary for SFXN4 Gene
SFXN4 (Sideroflexin 4) is a Protein Coding gene. Diseases associated with SFXN4 include Combined Oxidative Phosphorylation Deficiency 18 and Macrocytic Anemia. Gene Ontology (GO) annotations related to this gene include cation transmembrane transporter activity and ion transmembrane transporter activity. An important paralog of this gene is SFXN5.
UniProtKB/Swiss-Prot Summary for SFXN4 Gene
Mitochondrial amino-acid transporter (By similarity). Does not act as a serine transporter: not able to mediate transport of serine into mitochondria (PubMed:30442778).