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FLASH GENE
Symbol COX10 contributors: shn - updated : 15-10-2010
HGNC name COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)
HGNC id 2260
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a long relatively hydrophilic N terminal
  • seve to nine potential transmembrane segments (TM9)
    • mono polymer homomer , complex
    HOMOLOGY
    interspecies ortholog to COX10, S.cerevisiae
    ortholog to COX10, Pan troglodytes
    ortholog to Cox10, Mus musculus
    ortholog to cox10, Danio rerio
    Homologene
    FAMILY
  • ub1a prenyltransferase family
    • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    text localized in mitochondrial inner membrane
    basic FUNCTION
  • terminal component of the mitochondrial respiratory chain that catalyzes the electron transfer from reduced cytochrome c to oxygen
  • catalyzes the conversion of protoheme (heme B) to heme O via the farnesylation of a vinyl group at position C2 in the first step of the mitochondrial heme A biosynthetic
  • involved in heme A biosynthesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS mitochondrial transport , electron transport
    text cellular respiration
    PATHWAY
    metabolism energetic
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ISCU (iron-sulfur cluster scaffold homolog) and COX10 (cytochrome c oxidase assembly protein), two important factors of the mitochondria electron transport chain and the tricarboxylic acid cycle have been identified as potential targets of MIR210
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) COX10D
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in HNPP (hereditary neuropathy with liability to pressure palsies)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • COX10-null mice have only 20-40% of wild-type mitochondrial function and the transgenic overexpressionof PGC-1a in these mice restores full mitochondrial function
  • COX10-/- mice treated with bezafibrate have 85% of WT OxPhos activity and their muscle function is improved compared with untreated littermates