Gene Symbol | SFXN4 |
Entrez Gene ID | 119559 |
Full Name | sideroflexin 4 |
Synonyms | BCRM1,COXPD18,SLC56A4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Combined oxidative phosphorylation deficiency 18, 615578 (3) |