MFF
entrez
56947
canonical
uniprot
Q9GZY8
canonical
ensembl
ENSG00000168958
resolver
ensp
ENSP00000302037
resolver
ensp
ENSP00000304134
resolver
ensp
ENSP00000304898
resolver
ensp
ENSP00000338412
resolver
ensp
ENSP00000346498
resolver
ensp
ENSP00000375912
resolver
ensp
ENSP00000386641
resolver
ensp
ENSP00000386964
resolver
ensp
ENSP00000415313
resolver
ensp
ENSP00000516738
resolver
ensp
ENSP00000538660
resolver
ensp
ENSP00000538664
resolver
ensp
ENSP00000538667
resolver
ensp
ENSP00000538670
resolver
ensp
ENSP00000538672
resolver
ensp
ENSP00000538677
resolver
ensp
ENSP00000538686
resolver
ensp
ENSP00000605769
resolver
ensp
ENSP00000636838
resolver
enst
ENST00000392059
resolver
enst
ENST00000409616
resolver
enst
ENST00000456345
resolver
enst
ENST00000707109
resolver
enst
ENST00000868601
resolver
enst
ENST00000868611
resolver
enst
ENST00000868618
resolver
enst
ENST00000868627
resolver
enst
ENST00000935710
resolver
enst
ENST00000966779
resolver
genesymbol
MFF
resolver
genesymbol_syn
C2orf33
resolver
hgnc
HGNC:24858
resolver
uniprot
A0A0A0MS29
resolver
uniprot
A0A9H3ZVE5
resolver
uniprot
A0A9L9PY92
resolver
uniprot
H7C433
resolver
uniprot
Q567U1
resolver
uniprot
Q658R6
resolver
uniprot
Q9BVZ1
resolver
uniprot
Q9H690
resolver
uniprot
Q9NRG8
resolver
uniprot_entry
A0A0A0MS29_HUMAN
resolver
uniprot_entry
A0A9H3ZVE5_HUMAN
resolver
uniprot_entry
A0A9L9PY92_HUMAN
resolver
uniprot_entry
H7C433_HUMAN
resolver
uniprot_entry
MFF_HUMAN
resolver
uniprot_sec
Q567U1
resolver
uniprot_sec
Q658R6
resolver
uniprot_sec
Q9BVZ1
resolver
uniprot_sec
Q9H690
resolver
uniprot_sec
Q9NRG8
resolver
amino_acid_sequence
MSKGTSSDTSLGRVSRAAFPSPTAAEMAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASVIMQVPERIVVAGNNEDVSFSRPADLDLIQSTPFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRLKRERSMSENAVRQNGQLVRNDSLWHRSDSAPRNKISRFQAPISAPEYTVTPSPQQARVCPPHMLPEDGANLSSARGILSLIQSSTRRAYQQILDVLDENRRPVLRGGSAAATSNPHHDNVRYGISNIDTTIEGTSDDLTVVDAASLRRQIIKLNRRLQLLEEENKERAKREMVMYSITVAFWLLNSWLWFRR
uniprot
proteins
disease_involvement
DISEASE: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 (EMPF2) [MIM:617086]: 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. {ECO:0000269|PubMed:26783368}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:Q4KM98, ECO:0000269|PubMed:18353969, ECO:0000269|PubMed:23530241, ECO:0000269|PubMed:24196833}.
uniprot
proteins
mass_dalton
38465
uniprot
proteins
protein_family
Tango11 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18353969
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23530241
uniprot
proteins
pubmed
23921378
uniprot
proteins
pubmed
24196833
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26783368
uniprot
proteins
sequence_length
342
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:18353969, ECO:0000269|PubMed:23921378}; Single-pass type IV membrane protein {ECO:0000255}. Peroxisome {ECO:0000269|PubMed:18353969, ECO:0000269|PubMed:23921378}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000250|UniProtKB:Q4KM98}.
uniprot
proteins
transmembrane_region
TRANSMEM 323..340; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins