MPV17 (mitochondrial inner membrane protein MPV17)

2014-11-01  

Identity

HGNC
LOCATION
2p23.3
LOCUSID
ALIAS
CMT2EE,MTDPS6,SYM1
FUSION GENES

Other Information

Locus ID:

NCBI: 4358
MIM: 137960
HGNC: 7224
Ensembl: ENSG00000115204

Variants:

dbSNP: 4358
ClinVar: 4358
TCGA: ENSG00000115204
COSMIC: MPV17

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115204ENST00000233545P39210
ENSG00000115204ENST00000233545A0A0S2Z3Z9
ENSG00000115204ENST00000357186A8MPV4
ENSG00000115204ENST00000380044P39210
ENSG00000115204ENST00000380044A0A0S2Z3Z9
ENSG00000115204ENST00000399052A8MTD3
ENSG00000115204ENST00000402310B5MC53
ENSG00000115204ENST00000402722B5MC10
ENSG00000115204ENST00000403262B5MCF8
ENSG00000115204ENST00000405076G5E9F5
ENSG00000115204ENST00000405983E7EX18
ENSG00000115204ENST00000415514F8WEL3
ENSG00000115204ENST00000426513B5MC10
ENSG00000115204ENST00000428910C9J473
ENSG00000115204ENST00000430991H0Y6M5

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146

References

Pubmed IDYearTitleCitations
165829102006MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.134
169093922006Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.36
176945482007Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.31
200749882010MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.24
237147492014Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.21
186950622008Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.18
258619902015The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
183299342008Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.16
190129922009Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.15

Citation

Dessen P

MPV17 (mitochondrial inner membrane protein MPV17)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70398/mpv17