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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 (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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | -- |
GO:0015267 | channel activity | IMP | 25861990 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peroxisome |
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 |
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: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MPV17 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MPV17 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MPV17 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mpv17l 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mpv17 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MPV17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MPV17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MPV17 30 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | mpv17 30 31 |
|
OneToOne | |
-- 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001778 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG11077 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | T18D3.9 30 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR120C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SYM1 30 31 33 33 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F22924g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G24570 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0228300 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU02117 30 |
|
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mitochondrial dna depletion syndrome 6 |
|
|
charcot-marie-tooth disease, axonal, type 2ee |
|
|
mpv17-related mitochondrial dna maintenance defect |
|
|
mitochondrial dna depletion syndrome |
|
|
nephrotic syndrome |
|
|