MPV17 Gene (Protein Coding)

Mitochondrial Inner Membrane Protein MPV17

GC02M027309
GIFtS:
42
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] See more...

Aliases for MPV17 Gene

Aliases for MPV17 Gene

  • Mitochondrial Inner Membrane Protein MPV17 2 3 5
  • Protein Mpv17 3 4
  • SYM1 2 3
  • Mpv17, Human Homolog Of Glomerulosclerosis And Nephrotic Syndrome 3
  • MpV17 Transgene, Murine Homolog, Glomerulosclerosis 2
  • MPV17, Mitochondrial Inner Membrane Protein 3
  • MpV17 Mitochondrial Inner Membrane Protein 3
  • Glomerulosclerosis 2
  • CMT2EE 3
  • MTDPS6 3
  • MPV17 5

External Ids for MPV17 Gene

Previous GeneCards Identifiers for MPV17 Gene

  • GC02M027453
  • GC02M027624
  • GC02M027506
  • GC02M027444
  • GC02M027385
  • GC02M027532
  • GC02M027277

Summaries for MPV17 Gene

Entrez Gene Summary for MPV17 Gene

  • 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]

GeneCards Summary for MPV17 Gene

MPV17 (Mitochondrial Inner Membrane Protein MPV17) is a Protein Coding gene. Diseases associated with MPV17 include Mitochondrial Dna Depletion Syndrome 6 and Charcot-Marie-Tooth Disease, Axonal, Type 2Ee. Among its related pathways are Peroxisome. An important paralog of this gene is MPV17L2.

UniProtKB/Swiss-Prot Summary for MPV17 Gene

  • Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis (PubMed:25861990). Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance (PubMed:26760297). May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation (By similarity).

Gene Wiki entry for MPV17 Gene

Additional gene information for MPV17 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MPV17 Gene

Genomics for MPV17 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MPV17 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MPV17 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MPV17

Top Transcription factor binding sites by QIAGEN in the MPV17 gene promoter:
  • c-Rel
  • C/EBPalpha
  • GATA-1
  • GATA-2
  • GATA-3
  • Max
  • p53
  • Roaz
  • Sp1

Genomic Locations for MPV17 Gene

Latest Assembly
chr2:27,309,492-27,325,680
(GRCh38/hg38)
Size:
16,189 bases
Orientation:
Minus strand

Previous Assembly
chr2:27,532,360-27,545,964
(GRCh37/hg19 by Entrez Gene)
Size:
13,605 bases
Orientation:
Minus strand

chr2:27,532,360-27,548,547
(GRCh37/hg19 by Ensembl)
Size:
16,188 bases
Orientation:
Minus strand

Genomic View for MPV17 Gene

Genes around MPV17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPV17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPV17 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MPV17 Gene

Proteins for MPV17 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for MPV17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P39210-MPV17_HUMAN
    Recommended name:
    Protein Mpv17
    Protein Accession:
    P39210
    Secondary Accessions:
    • D6W555
    • Q53SY2
    • Q96B08

    Protein attributes for MPV17 Gene

    Size:
    176 amino acids
    Molecular mass:
    19733 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MPV17 Gene

Protein Expression for MPV17 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MPV17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MPV17 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MPV17 Gene

Domains & Families for MPV17 Gene

Gene Families for MPV17 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for MPV17 Gene

InterPro:
Blocks:
  • Mpv17/PMP22
ProtoNet:

Suggested Antigen Peptide Sequences for MPV17 Gene

GenScript: Design optimal peptide antigens:
  • MpV17 transgene, murine homolog, glomerulosclerosis, isoform CRA_a (D6W556_HUMAN)
  • Protein Mpv17 (MPV17_HUMAN)
  • Mpv17 protein (Q9UPC7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P39210

UniProtKB/Swiss-Prot:

MPV17_HUMAN :
  • Belongs to the peroxisomal membrane protein PXMP2/4 family.
Family:
  • Belongs to the peroxisomal membrane protein PXMP2/4 family.
genes like me logo Genes that share domains with MPV17: view

Function for MPV17 Gene

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  6. Cell Lines for research

Molecular function for MPV17 Gene

UniProtKB/Swiss-Prot Function:
Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis (PubMed:25861990). Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance (PubMed:26760297). May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation (By similarity).
GENATLAS Biochemistry:
mouse glomerulosclerosis gene Mpv17,homolog,peroxisomal,located in the 5'utr region of the UCN gene

Phenotypes From GWAS Catalog for MPV17 Gene

Gene Ontology (GO) - Molecular Function for MPV17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
GO:0015267 channel activity IMP 25861990
genes like me logo Genes that share ontologies with MPV17: view
genes like me logo Genes that share phenotypes with MPV17: view

Human Phenotype Ontology for MPV17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPV17

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MPV17 Gene

Localization for MPV17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPV17 Gene

Mitochondrion inner membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MPV17 gene
Compartment Confidence
mitochondrion 5
peroxisome 5
cytosol 4
nucleus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
plasma membrane 0

Gene Ontology (GO) - Cellular Components for MPV17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IDA 16582910
GO:0005743 mitochondrial inner membrane IEA,IDA 16582910
GO:0005777 peroxisome NAS 7957077
GO:0005778 peroxisomal membrane TAS --
genes like me logo Genes that share ontologies with MPV17: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MPV17 Gene

Pathways & Interactions for MPV17 Gene

PathCards logo

SuperPathways for MPV17 Gene

SuperPathway Contained pathways
1 Peroxisome
Peroxisome
-
genes like me logo Genes that share pathways with MPV17: view

Pathways by source for MPV17 Gene

1 KEGG pathway for MPV17 Gene

Gene Ontology (GO) - Biological Process for MPV17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000002 mitochondrial genome maintenance IMP 16582910
GO:0006625 protein targeting to peroxisome TAS --
GO:0032836 glomerular basement membrane development ISS --
GO:0034614 cellular response to reactive oxygen species ISS --
GO:0042592 homeostatic process IMP 16582910
genes like me logo Genes that share ontologies with MPV17: view

No data available for SIGNOR curated interactions for MPV17 Gene

Drugs & Compounds for MPV17 Gene

Products:

  1. Drug products for research

(1) Drugs for MPV17 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MPV17: view

Transcripts for MPV17 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for MPV17 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MPV17

Alternative Splicing Database (ASD) splice patterns (SP) for MPV17 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d · 12e · 12f
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - - - - - - - - -
SP6: - - - - - - - - - -
SP7: - - - - - -
SP8: - - - - - - - - - -
SP9: - - - - - -
SP10: - - - - - - - - - - -
SP11: - - - -
SP12: -
SP13: - -
SP14: -
SP15: -

Relevant External Links for MPV17 Gene

GeneLoc Exon Structure for
MPV17

Expression for MPV17 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MPV17 Gene

mRNA expression in normal human tissues for MPV17 Gene
mRNA expression by GTEx for MPV17 GenemRNA expression by BioGPS for MPV17 Gene

Protein differential expression in normal tissues from HIPED for MPV17 Gene

This gene is overexpressed in Frontal cortex (6.5) and Monocytes (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MPV17 Gene



Protein tissue co-expression partners for MPV17 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MPV17

SOURCE GeneReport for Unigene cluster for MPV17 Gene:

Hs.75659

mRNA Expression by UniProt/SwissProt for MPV17 Gene:

P39210-MPV17_HUMAN
Tissue specificity: Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart.

Evidence on tissue expression from TISSUES for MPV17 Gene

  • Skin(4.5)
  • Liver(4.5)
  • Nervous system(3.9)
  • Muscle(2.7)
  • Kidney(2.5)
  • Heart(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MPV17 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • salivary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MPV17: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MPV17 Gene

Orthologs for MPV17 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MPV17 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MPV17 30 31
  • 99.57 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MPV17 30 31
  • 90.72 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MPV17 30 31
  • 90.53 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mpv17l 30
  • 90.34 (n)
Mouse
(Mus musculus)
 Mammalia Mpv17 30 17 31
  • 89.77 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MPV17 31
  • 83 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MPV17 31
  • 77 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MPV17 30 31
  • 72.12 (n)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii mpv17 30 31
  • 66.09 (n)
 OneToOne
-- 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001778 30
  • 53.45 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG11077 31
  • 36 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea T18D3.9 30 31
  • 42.83 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AFR120C 30
  • 43.33 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SYM1 30 31 33 33
  • 42.2 (n)
 OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F22924g 30
  • 40.56 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT3G24570 30
  • 47.06 (n)
Rice
(Oryza sativa)
 Liliopsida Os01g0228300 30
  • 47.62 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU02117 30
  • 51.03 (n)
Species where no ortholog for MPV17 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for MPV17 Gene

ENSEMBL:
Gene Tree for MPV17 (if available)
TreeFam:
Gene Tree for MPV17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MPV17: view image

Paralogs for MPV17 Gene

Paralogs for MPV17 Gene

(3) SIMAP similar genes for MPV17 Gene using alignment to 14 proteins:

  • MPV17_HUMAN
  • A8MPV4_HUMAN
  • A8MTD3_HUMAN
  • B5MC10_HUMAN
  • B5MC53_HUMAN
  • B5MCF8_HUMAN
  • C9J473_HUMAN
  • D6W556_HUMAN
  • E7EX18_HUMAN
  • F8WEL3_HUMAN
  • G5E9F5_HUMAN
  • H0Y6M5_HUMAN
  • H0Y7B6_HUMAN
  • Q9UPC7_HUMAN
genes like me logo Genes that share paralogs with MPV17: view

Variants for MPV17 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MPV17 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
16166 Pathogenic: Navajo neurohepatopathy 27,309,311(-) GCAGTGAGGCAAGATC
NG_008075.1(MPV17):g.16680_18253delinsCCTG
841778 Pathogenic: not provided 27,313,012(-) GGACACCATGGTCA/G
NM_002437.5(MPV17):c.155_167del (p.Leu52fs) 		FRAMESHIFT
895508 Uncertain Significance: Navajo neurohepatopathy 27,312,736(-) G/C
NM_002437.5(MPV17):c.223C>G (p.Arg75Gly) 		MISSENSE
896846 Uncertain Significance: Navajo neurohepatopathy 27,309,545(-) C/T
NM_002437.5(MPV17):c.*367G>A 		THREE_PRIME_UTR
896847 Uncertain Significance: Navajo neurohepatopathy 27,309,546(-) G/A
NM_002437.5(MPV17):c.*366C>T 		THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MPV17 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MPV17 Gene

Variant ID Type Subtype PubMed ID
nsv2654 CNV insertion 18451855
nsv833614 CNV gain 17160897

Variation tolerance for MPV17 Gene

Residual Variation Intolerance Score: 73.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.69; 14.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MPV17 Gene

Human Gene Mutation Database (HGMD)
MPV17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPV17

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPV17 Gene

Disorders for MPV17 Gene

MalaCards: The human disease database

(34) MalaCards diseases for MPV17 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
mitochondrial dna depletion syndrome 6
  • mtdps6
charcot-marie-tooth disease, axonal, type 2ee
  • cmt2ee
mpv17-related mitochondrial dna maintenance defect
  • mitochondrial dna depletion syndrome 6 , hepatocerebral type
mitochondrial dna depletion syndrome
  • mtdna depletion syndrome
nephrotic syndrome
  • finnish congenital nephrotic syndrome
- elite association - COSMIC cancer census association via MalaCards
Search MPV17 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MPV17_HUMAN
  • Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810]: A disease due to mitochondrial dysfunction. It is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, peripheral neuropathy, corneal scarring, acral ulceration and osteomyelitis leading to autoamputation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections. {ECO:0000269 PubMed:16582907, ECO:0000269 PubMed:16582910, ECO:0000269 PubMed:16909392, ECO:0000269 PubMed:17694548, ECO:0000269 PubMed:18695062, ECO:0000269 PubMed:19520594, ECO:0000269 PubMed:20074988, ECO:0000269 PubMed:23714749, ECO:0000269 PubMed:23829229, ECO:0000269 PubMed:25129007, ECO:0000269 PubMed:25861990, ECO:0000269 PubMed:26741492, ECO:0000269 PubMed:27536553, ECO:0000269 PubMed:28207748, ECO:0000269 PubMed:29282788, ECO:0000269 PubMed:30833296}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease, axonal, 2EE (CMT2EE) [MIM:618400]: A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2EE is a slowly progressive, sensorimotor peripheral axonal neuropathy with onset in the first or second decades of life. The disorder primarily affects the lower limbs, sometimes resulting in loss of ambulation, with later onset of upper limb involvement. {ECO:0000269 PubMed:22508010, ECO:0000269 PubMed:24190800, ECO:0000269 PubMed:26437932, ECO:0000269 PubMed:30298599}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MPV17

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MPV17: view

No data available for Genatlas for MPV17 Gene

Publications for MPV17 Gene

  1. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. (PMID: 16582910) Spinazzola A … Zeviani M (Nature genetics 2006) 2 3 4 74
  2. The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization. (PMID: 8281143) Karasawa M … Weiher H (Human molecular genetics 1993) 2 3 4 23
  3. MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. (PMID: 30298599) Baumann M … Senderek J (Clinical genetics 2019) 3 4 74
  4. A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy. (PMID: 26437932) Choi YR … Choi BO (BMC neurology 2015) 3 4 74
  5. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. (PMID: 18695062) Spinazzola A … Zeviani M (Archives of neurology 2008) 3 4 74

ExternalLinks

View latest publications for MPV17 gene in Mastermind

Products for MPV17 Gene

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