mitochondrial elongation factor 2
The information on this page was automatically extracted from online scientific databases.
From NCBI 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]
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.
A homozygous stop-gain variant in MIEF2 has been found in a patient with autosomal recessive myopathy. Clinical and biochemical features include progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated creatine kinase levels, and deficiency of multiple respiratory chain enzymes.