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FLASH GENE
Symbol COX18 contributors: mct/npt - updated : 14-11-2022
HGNC name COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)
HGNC id 26801
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • Alb3–Oxa1–YidC protein family
  • OXA1/oxaA family
    • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    basic FUNCTION
  • involved in cytochrome c oxidase assembly
  • involved in mitochondrial biogenesis, is functionally conserved and tightly regulated (Gaisne 2006)
  • novel COX assembly gene required for membrane insertion of the C-terminal portion of COX subunit II (Sacconi 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to deep intracerebral hemorrhage (DICH)
    Variant & Polymorphism SNP
  • COX18-rs221592 G allele was associated with female DICH risks
    • Candidate gene
  • is a new candidate when screening for mitochondrial disorders associated with isolated CIV deficiency
    • Marker
    Therapy target
    ANIMAL & CELL MODELS