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References OMIM Gene GeneReviews HGMD HGNC
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