The sfxn4 gene encodes a mitochondrial sideroflexin transporter protein localized to the mitochondrial inner membrane. It is involved in iron utilization and heme biosynthesis during embryonic developm...[+]

The sfxn4 gene encodes a mitochondrial sideroflexin transporter protein localized to the mitochondrial inner membrane. It is involved in iron utilization and heme biosynthesis during embryonic development, with expression detected in the neural crest, eye, brain, otic vesicle, branchial arches, and pronephros. [-]

             combined oxidative phosphorylation deficiency 18

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD