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GENATLAS PHENOTYPE

last update : 13/07/2006

Symbol	CMP3D
Location	8q22
Name	complex III mitochondrial deficiency
Corresponding gene	UQCRB
Main clinical features	lactic acidosis and hypoglycemia, with defect of fatty acid oxydation, but without psychomotor retardation
Genetic determination	autosomal recessive
Function/system disorder	metabolism/carbohydrates
	digestive tract/liver and annex
Type	disease

Gene product

Name	ubiquinol-cytochrome c reductase binding protein

Remark(s)