MFF - mitochondrial fission factor Gene

Also Known as EMPF2; GL004; C2orf33

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56947

About MFF

Cytogenetic location: 2q36.3 Genomic coordinates (GRCh38): 2:227,325,251-227,357,836 (from NCBI)

This gene has 27 transcripts (splice variants), 297 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 68.3), brain (RPKM 24.9) and 25 other tissues.

Summary

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 Products (9)

mRNA	Protein	Name
NM_001277061.2	NP_001263990.1	mitochondrial fission factor isoform a
NM_001277062.2	NP_001263991.1	mitochondrial fission factor isoform b
NM_001277063.2	NP_001263992.1	mitochondrial fission factor isoform c
NM_001277064.2	NP_001263993.1	mitochondrial fission factor isoform d
NM_001277065.2	NP_001263994.1	mitochondrial fission factor isoform e
NM_001277066.2	NP_001263995.1	mitochondrial fission factor isoform e
NM_001277067.1	NP_001263996.1	mitochondrial fission factor isoform f
NM_001277068.1	NP_001263997.1	mitochondrial fission factor isoform g
NM_020194.5	NP_064579.3	mitochondrial fission factor isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	18353969	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21149567	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	23530241	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial fission	IDA IDA: Inferred from direct assay	23283981	GOA
involved in mitochondrial fission	IMP IMP: Inferred from mutant phenotype	18353969	GOA
acts upstream of or within mitochondrion organization	IMP IMP: Inferred from mutant phenotype	21149567	GOA
involved in peroxisome fission	IMP IMP: Inferred from mutant phenotype	18353969	GOA
involved in protein targeting to mitochondrion	IDA IDA: Inferred from direct assay	23283981	GOA
involved in protein targeting to mitochondrion	IMP IMP: Inferred from mutant phenotype	21149567	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	18353969	GOA
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	21149567	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	18353969	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	18353969	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MFF Protein Structure

Miff

0
100
200
300
342 a.a.

Protein Preferred Names	Protein Names
mitochondrial fission factor

MFF Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MFF	Q9GZY8	DNM1L	Homo sapiens	O00429	Crosslink	26358295

Cross: Cross-species interaction Intra: Intraspecies interaction

MFF Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82267	MFF Antibody (YA2012)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	EMPF2 Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect Leigh-Like Basal Ganglia Disease-Optic Atrophy-Peripheral Neuropathy Syndrome Leigh-Like Encephalopathy-Optic Atrophy-Peripheral Neuropathy Syndrome
Mitochondrial Encephalomyopathy	Mitochondrial Encephalomyopathies Encephalomyopathy, Mitochondrial
Glans Penis Cancer	Malignant Neoplasm Of Glans Penis Malignant Tumor Of Glans Penis Malignant Tumour Of Glans Penis
Muscular Dystrophy, Congenital, Megaconial Type	Megaconial Type Congenital Muscular Dystrophy Congenital Megaconial Myopathy Congenital Muscular Dystrophy Due To Phosphatidylcholine Biosynthesis Defect Congenital Muscular Dystrophy With Mitochondrial Structural Abnormalities Megaconial Congenital Muscular Dystrophy MDCMC Muscular Dystrophy, Congenital, With Mitochondrial Structural Abnormalities Megaconial Congénital Muscular Dystrophy Dystrophy, Muscular, Congenital, Megaconial Type
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Encephalopathy, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1 EMPF1 Empf Dnm1l-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect Encephalopahty, Lethal, Due To Defective Mitochondrial Peroxisomal Fission Encephalopahty, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1 Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Cranial Nerve Disease	Cranial Nerve Disorder Disorder Of Cranial Nerve Cranial Nerve Diseases
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Peroxisomal Biogenesis Disorder	Zellweger Spectrum Disorders Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum Disorders Of Peroxisome Biogenesis Zellweger Spectrum Zellweger Syndrome Spectrum Peroxisomal Biogenesis Disorders Pbd, Zss Pbd-Zsd Pbd-Zss Pbd-Zellweger Spectrum Disorder Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisome Biogenesis Disorder Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorders Zellweger Spectrum Disorder Hyperpipecolic Acidaemia
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Peroxisome Biogenesis Disorder 1b	Peroxisome Biogenesis Disorder Infantile Refsum Disease Infantile Phytanic Acid Storage Disease PBD1B Refsum Disease, Infantile Adrenoleukodystrophy, Autosomal Neonatal Ird Mild Pbd-Zsd Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Pbd-Zsd Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Autosomal Neonatal Adrenoleukodystrophy Refsum Disease Infantile Peroxisome Biogenesis Disorders Peroxisome Biogenesis Disorder, Type 1b
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-139109	IR-783		99.87%	Unkown
HY-P6374	IIQLPEIVVV TFA		99.91%	Unkown
HY-P11005	P259	Inhibitor	99.75%	Unkown
HY-101433	N-Acetylprocainamide hydrochloride	Inhibitor	99.83%	Yes
HY-RS08380	MFF Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19299	Mff Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25790	Mff Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MFF	VGNC	VGNC:63470
Rattus norvegicus	MFF	RGD	RGD:1310230
Macaca mulatta	MFF	VGNC	VGNC:99382
Mus musculus	MFF	MGD	MGI:1922984
Others	MFF	NCBI