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GENATLAS PHENOTYPE

last update : 18/07/2006

Symbol	COX10D
Location	17p13.1-q11.1
Name	COX10 deficiency
Corresponding gene	COX10
Main clinical features	tubulopathy, leukodystrophy, early-onset anemia, including cases with Leigh syndrome and fatal hypertrophic cardiomyopathy
Genetic determination
Function/system disorder	metabolism/lipoprotein-lipid
Type	disease

Gene product

Name	cytochrome c oxidase (COX) assembly protein involved in the mitochondrial heme biosynthetic pathway, heme A farnesyltransferase

Remark(s)

mitochondrial complex IV deficiency