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GENATLAS PHENOTYPE

last update : 23-04-2013

Symbol	OXPHOSD1
Location	3q25.3
Name	mitochondrial oxidative phosphorylation deficiency 1
Other name(s)	combined oxidative phosphorylation deficiency 1
Corresponding gene	GFM1
Other symbol(s)	COXPD1
Main clinical features	severe defect in mitochondrial translation, reduced levels of oxidative phosphorylation complexes containing mitochondrial DNA (mtDNA)-encoded subunits, and progressive hepatoencephalopathy, fatal hepatopathy but normal cardiac function encephalopathy and liver failure
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
	digestive tract/gastrointestinal
Type	disease

Remark(s)