MIEF2
Function
Mitochondrial outer membrane protein involved in the regulation of 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.
Involvement in disease
Combined oxidative phosphorylation deficiency 49
COXPD49
An autosomal recessive, mitochondrial myopathy characterized by progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated serum creatine kinase, and deficiencies of multiple respiratory chain enzymes.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the MID49/MID51 family.
Tissue Specificity
Expressed in all tissues tested with highest expression in heart and skeletal muscle.
Cellular localization
- Mitochondrion outer membrane
- Single-pass membrane protein
- Colocalizes with DNM1L at mitochondrial membrane. Forms foci and rings around mitochondria.
Alternative names
MID49, SMCR7, MIEF2, Mitochondrial dynamics protein MID49, Mitochondrial dynamics protein of 49 kDa, Mitochondrial elongation factor 2, Smith-Magenis syndrome chromosomal region candidate gene 7 protein