MPV17 - mitochondrial inner membrane protein MPV17 Gene

Also Known as SYM1; CMT2EE; MTDPS6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4358

About MPV17

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,309,492-27,323,097 (from NCBI)

This gene has 23 transcripts (splice variants), 194 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 8.6), thyroid (RPKM 7.8) and 25 other tissues.

Summary

This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of Reactive Oxygen Species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008]

MPV17 Products (1)

mRNA	Protein	Name
NM_002437.5	NP_002428.1	protein Mpv17

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables channel activity	IMP IMP: Inferred from mutant phenotype	25861990	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in homeostatic process	IMP IMP: Inferred from mutant phenotype	16582910	GOA
involved in mitochondrial genome maintenance	IMP IMP: Inferred from mutant phenotype	16582910	GOA
involved in regulation of mitochondrial DNA metabolic process	IMP IMP: Inferred from mutant phenotype	26760297	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	16582910	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	16582910	GOA
NOT located in peroxisome	IDA IDA: Inferred from direct assay	16582910	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

MPV17 Protein Structure

Mpv17_PMP22

0
100
176 a.a.

Protein Preferred Names	Protein Names
protein Mpv17	MPV17, mitochondrial inner membrane protein

Related Diseases

Diseases	Alias
Mitochondrial Dna Depletion Syndrome 6	Navajo Neurohepatopathy Navajo Neuropathy MTDPS6 Nnh Nn Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome Navajo Familial Neurogenic Arthropathy Mpv17-Associated Hepatocerebral Mds Mitochondrial Dna Depletion 6 Hepatocerebral Type Mitochondrial Dna Depletion Syndrome , Type 6
Charcot-Marie-Tooth Disease, Axonal, Type 2ee	CMT2EE Charcot-Marie-Tooth Neuropathy, Type 2ee Charcot-Marie-Tooth Disease Type 2ee Charcot-Marie-Tooth Disease, Axonal, 2ee
Mpv17-Related Mitochondrial Dna Maintenance Defect	Mitochondrial Dna Depletion Syndrome 6 , Hepatocerebral Type Mpv17 Deficiency Mpv17 Hepatocerebral Mitochondrial Dna Depletion Syndrome Navajo Neurohepatopathy
Mitochondrial Dna Depletion Syndrome 3	Deoxyguanosine Kinase Deficiency Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form MTDPS3 Dguok Deficiency Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Dguok-Related Mitochondrial Dna Depletion Syndrome Hepatocerebral Mitochondrial Dna Depletion Syndrome Mtdna Depletion Syndrome, Hepatocerebral Form Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type Mitochondrial Dna Depletion Syndrome , Type 3
Mitochondrial Dna Depletion Syndrome	Mtdna Depletion Syndrome
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Mitochondrial Metabolism Disease	Abnormality Of Mitochondrial Metabolism Mitochondrial Diseases
Axonal Neuropathy
Metabolic Acidosis
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Mitochondrial Dna Depletion Syndrome 2	Mitochondrial Dna Depletion Syndrome, Myopathic Form MTDPS2 Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form Mitochondrial Dna Depletion Myopathy, Tk2-Related Tk2-Related Mitochondrial Dna Depletion Myopathy Mtdna Depletion Syndrome, Myopathic Form Mitochondrial Dna Depletion Myopathy Tk2-Related Mitochondrial Dna Depletion Syndrome 2 Myopathic Type Myopathic Mitochondrial Dna Depletion Syndrome Mitochondrial Dna Depletion Syndrome, Type 2
Mitochondrial Dna Depletion Syndrome 4b	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Mngie Syndrome Thymidine Phosphorylase Deficiency MTDPS4B Mitochondrial Neurogastrointestinal Encephalopathy Disease Mngie Myoneurogastrointestinal Encephalopathy Syndrome Ogimd Oculogastrointestinal Muscular Dystrophy Polip Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related Mngie, Polg-Related Mepop Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction Mngie Disease Mitochondrial Dna Depletion Syndrome 4b Mngie Type Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related Mngie Polg-Related Mitochondrial Dna Depletion Syndrome, Type 4b Visceral Myopathy Familial External Ophthalmoplegia
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	HSAN2B Hereditary Sensory And Autonomic Neuropathy Type 2b Hereditary Sensory And Autonomic Neuropathy Type Iib Neuropathy, Hereditary Sensory And Autonomic, Type 2b Neuropathy, Hereditary Sensory And Autonomic, 2b Neuropathy, Sensory And Autonomic, Hereditary, Type Iib
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	SANDO Mitochondrial Recessive Ataxia Syndrome Spinocerebellar Ataxia With Epilepsy Epilepsy, Progressive Myoclonic 5 Epm5 Miras SCAE Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Progressive Myoclonic Epilepsy Type 5 Pme Type 5 Progressive Myoclonus Epilepsy Type 5 Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome Recessive Mitochondrial Ataxia Syndrome Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome Mscae Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy Epilepsy, Progressive Myoclonic, 5 Ataxia Neuropathy Spectrum
Mitochondrial Dna Depletion Syndrome 4a	Alpers Syndrome Alpers-Huttenlocher Syndrome Alpers Progressive Infantile Poliodystrophy Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Disease Progressive Sclerosing Poliodystrophy Pndc Diffuse Cerebral Sclerosis Of Schilder MTDPS4A Neuronal Degeneration Of Childhood With Liver Disease, Progressive Alper'S Syndrome Alpers' Disease Or Gray-Matter Degeneration Diffuse Cerebral Degeneration In Infancy Infantile Poliodystrophy Poliodystrophia Cerebri Progressiva Progressive Cerebral Poliodystrophy Alpers' Disease Alpers Progressive Sclerosing Poliodystrophy Progressive Neuronal Degeneration Of Childhood With Liver Disease Ahs Mitochondrial Dna Depletion Syndrome 4a Alpers Type Neuronal Degeneration Of Childhood With Liver Disease Progressive
Chronic Progressive External Ophthalmoplegia	Progressive External Ophthalmoplegia Cpeo Peo Ophthalmoplegia, Chronic Progressive External Ophthalmoplegia, External, Progressive, Chronic Graefe Disease Peo - [Progressive External Ophthalmoplegia] Ophthalmoplegia Plus Syndrome
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	PEOA4 Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4 Chronic Progressive External Ophthalmoplegia Progressive External Ophthalmoplegia, Autosomal Dominant 4 Autosomal Dominant Progressive External Ophthalmoplegia 4 Cpeo Graefe Disease Mitochondrial Ocular Myopathy Ocular Myopathy Of Von Graefe-Fuchs Progressive External Ophthalmoplegia Autosomal Dominant 4 Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4 Kearns-Sayre Syndrome
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Megdel Syndrome MEGDEL Mgca6 3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome Megdhel 3-Methylglutaconic Aciduria, Type Vi Serac1 Defect 3-Methylglutaconic Aciduria Type 6 3-Mgca Type Iv 3-Mgca-4 3-Methylglutaconic Aciduria Type Vi 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome Megdhel Syndrome 3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome 3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome
Motor Peripheral Neuropathy	Motor Neuritis Peripheral Motor Neuropathy Hereditary Motor And Sensory Neuropathy Hsmn Hsmn - Hereditary Sensory And Motor Neuropathy Neuropathic Muscular Atrophy Hereditary Sensory And Motor Neuropathy Hereditary Motor And Sensory Neuropathies
Encephalopathy, Ethylmalonic	Ethylmalonic Encephalopathy EE Epema Syndrome Encephalopathy, Petechiae, And Ethylmalonic Aciduria Ethe1 Deficiency Eme Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria
Mitochondrial Dna Depletion Syndrome 7	Ohaha Syndrome Infantile Onset Spinocerebellar Ataxia Iosca Infantile-Onset Spinocerebellar Ataxia Spinocerebellar Ataxia 8 MTDPS7 Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome Sca8 Spinocerebellar Ataxia Infantile With Sensory Neuropathy Spinocerebellar Ataxia, Infantile-Onset Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy Spinocerebellar Ataxia 8, Formerly Sca8, Formerly Iosca, Mitochondrial Dna Depletion Syndrome 7 Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form Mtdna Depletion Syndrome, Hepatocerebrorenal Form Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis Pure Spinocerebellar Ataxia Japanese Type Sca4 Pure Japanese Type Spinocerebellar Ataxia Infantile-Onset Mitochondrial Dna Depletion Syndrome , Type 7
Leukodystrophy	Leukodystrophies
Pearson Marrow-Pancreas Syndrome	Pearson Syndrome Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction Pearson'S Marrow/Pancreas Syndrome Pearson'S Syndrome Pearson'S Marrow-Pancreas Syndrome
Gracile Syndrome	Finnish Lethal Neonatal Metabolic Syndrome Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death Flnms Fellman Syndrome Fellman Disease Finnish Lactic Acidosis With Hepatic Hemosiderosis Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome Lactic Acidosis, Finnish, With Hepatic Hemosiderosis Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death GRACILE
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
Mitochondrial Dna Depletion Syndrome 1	MTDPS1 Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related Myoneurogastrointestinal Encephalopathy Syndrome Polip Syndrome Mitochondrial Dna Depletion Syndrome, Type 1 Mngie, Tymp-Related Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction Mitochondrial Dna Depletion Syndrome 1, Mngie Type Mitochondrial Neurogastrointestinal Encephalomyopathy Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related Myoneurogastrointestinal Encephalomyopathy Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Ocular Motility Disease	Ocular Motility Disorders Abnormality Of Eye Movement Disorder Of Eye Movements Eye Movement Disorder Eye Movement Disorders
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
Mitochondrial Encephalomyopathy	Mitochondrial Encephalomyopathies Encephalomyopathy, Mitochondrial
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08631	MPV17 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08632	MPV17L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17001	Mal Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17732	Ucn Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MPV17	RGD	RGD:1310512
Canis familiaris	MPV17	VGNC	VGNC:54971
Mus musculus	MPV17	MGD	MGI:97138
Bos taurus	MPV17	VGNC	VGNC:50219
Macaca mulatta	MPV17	VGNC	VGNC:106184
Felis catus	MPV17	VGNC	VGNC:68312
Others	MPV17	NCBI