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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
Corresponding disease
MGCA9 3-methylglutaconic aciduria, type XI
Location 19q13.2      Physical location : 39.971.051 - 39.981.528
Synonym name
  • translocase of inner mitochondrial membrane 50 homolog (yeast)
  • Tim50-like protein
  • mitochondrial import inner membrane translocase subunit
  • Synonym symbol(s) TIM50L, MGC102733, TIM50
    DNA
    TYPE functioning gene
    STRUCTURE 13.37 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 5481 - 456 - 2017 28432072
    10 - 5422 - 240 - 2017 28432072
    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