Symbol
| COX10
| contributors: shn - updated : 15-10-2010
|
HGNC name
| COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)
|
HGNC id
| 2260
|
corresponding disease(s)
|
COX10D
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
| deletion
|  
|  
|
in HNPP (hereditary neuropathy with liability to pressure palsies) | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
| | | |
| 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 |