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FLASH GENE
Symbol MPV17 contributors: mct/npt - updated : 18-06-2010
HGNC name MpV17 mitochondrial inner membrane protein
HGNC id 7224
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreas    
 thyroid   highly
Nervousbrain    
Reproductivefemale systembreastmammary gland highly
 female systemovary  highly
Respiratorylung    
Skin/Tegumentskin   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/liningretinal pigment epithelium (RPE)  
Epithelialsecretoryglandularendocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to murine glomerulosclerosis gene Mpv17
ortholog to yeast Sym1
Homologene
FAMILY
  • peroxisomal membrane protein PXMP2/4 family
  • MPV17 subfamily
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    text located in the inner mitochondrial membrane (Dallabona 2010)
    basic FUNCTION
  • may be implicated in the metabolism of reactive oxygen species
  • playing a role in controlling MtDNA maintenance and OXPHOS activity
  • essential to maintain OXPHOS, glycogen storage, mitochondrial morphology and mtDNA stability in stressing conditions such as high temperature and ethanol-dependent growth (Dallabona 2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MDDS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    leads to impairment of mitochondrial bioenergetic functions and morphological features during stress conditions (Dallabona 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS