• Gene id: 4358

Gene Summary

• Gene Symbol: MPV17   Gene   UCSC   Ensembl
• Aliases: CMT2EE, MTDPS6, SYM1
• Gene name: mitochondrial inner membrane protein MPV17
• Alternate names: protein Mpv17, MPV17, mitochondrial inner membrane protein, MpV17 mitochondrial inner membrane protein, Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome,
• Gene location: 2p23.3 (27323096: 27309491)     Exons: 9     NC_000002.12
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: P39210  
  • Name: Protein Mpv17
  • Length: 176  
  • Mass: 19733
  • Tissue specificity: Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart. {ECO
• Sequence:

  MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGPVVGGWYKVLDR
  FIPGTTKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVP
  LHYRLAVVQCVAVIWNSYLSWKAHRL

• Structural information:
  • Interpro: IPR007248  
  • STRING: ENSP00000369383
• Other Databases: GeneCards:  MPV17  Malacards:  MPV17

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0015267	channel activity	IMP	molecular function
GO:1901858	regulation of mitochondrial DNA metabolic process	IMP	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005777	peroxisome	IDA	NOT|cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0034614	cellular response to reactive oxygen species	ISS	biological process
GO:2000377	regulation of reactive oxygen species metabolic process	ISS	biological process
GO:0048839	inner ear development	ISS	biological process
GO:0032836	glomerular basement membrane development	ISS	biological process
GO:0042592	homeostatic process	IMP	biological process
GO:0005777	peroxisome	NAS	cellular component
GO:0000002	mitochondrial genome maintenance	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome

Diseases

Associated diseases	References
Mitochondrial DNA depletion syndrome	KEGG:H00469
Mitochondrial DNA depletion syndrome	KEGG:H00469
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq