MIEF2

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.

Full Name

Mitochondrial Elongation Factor 2

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.

Biological Process

Dynamin family protein polymerization involved in mitochondrial fission Source: UniProtKB
Mitochondrion organization Source: UniProtKB
Positive regulation of mitochondrial fission Source: UniProtKB
Positive regulation of protein targeting to membrane Source: UniProtKB
Regulation of mitochondrion organization Source: UniProtKB

Cellular Location

Mitochondrion
Mitochondrion outer membrane
Note: Colocalizes with DNM1L at mitochondrial membrane. Forms foci and rings around mitochondria.

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.

Topology

Mitochondrial intermembrane: 1-22
Helical: 23-43
Cytoplasmic: 44-454