Aliases for MIEF2 Gene
External Ids for MIEF2 Gene
Previous HGNC Symbols for MIEF2 Gene
Previous GeneCards Identifiers for MIEF2 Gene
This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
GeneCards Summary for MIEF2 Gene
MIEF2 (Mitochondrial Elongation Factor 2) is a Protein Coding gene. Diseases associated with MIEF2 include Combined Oxidative Phosphorylation Deficiency 49 and Smith-Magenis Syndrome. An important paralog of this gene is MIEF1.
UniProtKB/Swiss-Prot Summary for MIEF2 Gene
Mitochondrial outer membrane protein which regulates mitochondrial organization (PubMed:29361167). It is required for mitochondrial fission and promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity.