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FLASH GENE
Symbol TIMM50 contributors: mct - updated : 17-07-2018
HGNC name translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)
HGNC id 23656
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreas   highly
Skin/Tegumentskin   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to yeast Tim50
Homologene
FAMILY
  • TIM50 family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • playing an important role for both mitochondrial function and early neuronal development
  • complexing with TIMM23
  • TIMM50, as a receptor, is essential for precursor proteins to be imported into the mitochondrial matrix
  • involved in protein translocating into the inner mitochondrial membrane
  • new role for TIMM50 in regulating cell proliferation and apoptosis through decreasing mitochondrial membrane potential in breast cancer cell
  • is an important biomarker for mitochondrial dysfunction, in particular for mitochondrial membrane defects
  • is a major receptor for transporting the precursor protein across the mitochondrial inner membrane in TIM23 complex
  • role of TIMM50 in the regulation of oxidative stress and cardiac morphology
  • could attenuate pathological cardiac hypertrophy primarily by reducing oxidative stress
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • regulates HSD3B2 expression and activity, representing a new role for translocases in steroidogenesis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MGCA9
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    induces cell apoptosis and several diseases
    constitutional     --low  
    in hypertrophic hearts
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascularaquiredheart failure
    could be a promising target for the prevention and therapy of cardiac hypertrophy and heart failure
    cancerreproductivebreast
    might be a potential target for controlling breast cancer progression
    ANIMAL & CELL MODELS