MFF gene

mitochondrial fission factor

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

From UniProt:

Plays a role in mitochondrial and peroxisomal fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface. May be involved in regulation of synaptic vesicle membrane dynamics by recruitment of DNM1L to clathrin-containing vesicles.

From NCBI Gene:

  • ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2

From UniProt:

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. [MIM:617086]

Cytogenetic Location: 2q36.3, which is the long (q) arm of chromosome 2 at position 36.3

Molecular Location: base pairs 227,325,151 to 227,357,836 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q36.3, which is the long (q) arm of chromosome 2 at position 36.3
  • C2orf33
  • EMPF2
  • GL004