Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
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