Free for academic non-profit institutions. Other users need a Commercial license
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]
MFF (Mitochondrial Fission Factor) is a Protein Coding gene. Diseases associated with MFF include Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 and Mitochondrial Encephalomyopathy. Among its related pathways are Apoptosis and Autophagy. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 21149567 |
GO:0042802 | identical protein binding | IPI | 18353969 |
GO:0042803 | protein homodimerization activity | IDA | 23530241 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IDA | -- |
GO:0005741 | mitochondrial outer membrane | IEA,IDA | 21149567 |
GO:0005777 | peroxisome | IEA,IDA | 18353969 |
GO:0008021 | synaptic vesicle | IEA | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptosis and Autophagy |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000266 | mitochondrial fission | ISS | -- |
GO:0001836 | release of cytochrome c from mitochondria | IMP | 18353969 |
GO:0006626 | protein targeting to mitochondrion | ISS | -- |
GO:0008053 | mitochondrial fusion | IMP | 23921378 |
GO:0010821 | regulation of mitochondrion organization | IMP | 18353969 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | · | 1h | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP16: | - |
ExUns: | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | · | 14c | · | 14d | · | 14e | · | 14f |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||
SP2: | |||||||||||||||||||
SP3: | - | - | |||||||||||||||||
SP4: | |||||||||||||||||||
SP5: | |||||||||||||||||||
SP6: | - | ||||||||||||||||||
SP7: | - | - | |||||||||||||||||
SP8: | |||||||||||||||||||
SP9: | |||||||||||||||||||
SP10: | |||||||||||||||||||
SP11: | - | ||||||||||||||||||
SP12: | |||||||||||||||||||
SP13: | |||||||||||||||||||
SP14: | |||||||||||||||||||
SP15: | |||||||||||||||||||
SP16: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MFF 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mff 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MFF 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | LOC102556337 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MFF 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MFF 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MFF 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MFF 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.31432 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.2181 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mff 30 31 |
|
OneToMany | |
MFF (1 of 2) 31 |
|
OneToMany | |||
zgc66022 30 |
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
668501 | Likely Benign: not provided | 227,330,854(+) | A/G | INTRON_VARIANT | |
669177 | Likely Benign: not provided | 227,330,862(+) | T/C | INTRON_VARIANT | |
669500 | Benign: not provided | 227,332,252(+) | G/A | INTRON_VARIANT | |
669501 | Benign: not provided | 227,355,445(+) | C/T | INTRON_VARIANT | |
669502 | Benign: not provided | 227,355,511(+) | T/C | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2163n106 | CNV | deletion | 24896259 |
dgv2164n106 | CNV | deletion | 24896259 |
esv2721554 | CNV | deletion | 23290073 |
esv2721555 | CNV | deletion | 23290073 |
esv2721556 | CNV | deletion | 23290073 |
esv2721557 | CNV | deletion | 23290073 |
esv2721558 | CNV | deletion | 23290073 |
esv3594532 | CNV | loss | 21293372 |
esv3594533 | CNV | loss | 21293372 |
nsv1072076 | CNV | deletion | 25765185 |
nsv1072077 | CNV | deletion | 25765185 |
nsv1072499 | CNV | deletion | 25765185 |
nsv1073016 | CNV | deletion | 25765185 |
nsv1127804 | CNV | deletion | 24896259 |
nsv1152322 | CNV | deletion | 26484159 |
nsv1153358 | CNV | deletion | 26484159 |
nsv584594 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
|
|
mitochondrial encephalomyopathy |
|
|
optic atrophy 1 |
|
|
3-methylglutaconic aciduria, type iii |
|
|
loiasis |
|
|