MFF
Function
Plays a role in mitochondrial and peroxisomal fission (PubMed:18353969, PubMed:23530241, PubMed:24196833). Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface (PubMed:23530241). May be involved in regulation of synaptic vesicle membrane dynamics by recruitment of DNM1L to clathrin-containing vesicles (By similarity).
Involvement in disease
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
EMPF2
An autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Tango11 family.
Tissue Specificity
Highly expressed in heart, kidney, liver, brain, muscle, and stomach.
Cellular localization
- Mitochondrion outer membrane
- Single-pass type IV membrane protein
- Peroxisome
- Cytoplasmic vesicle
- Secretory vesicle
- Synaptic vesicle
Alternative names
C2orf33, AD030, AD033, GL004, MFF, Mitochondrial fission factor