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GENATLAS PHENOTYPE

last update : 17-07-2018

Symbol	C5MTND
Location	17p11.2
Name	mitochondrial complex 5 deficiency
Other name(s)	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Corresponding gene	ATPAF2
Other symbol(s)	MC5DN1
Main clinical features	with severe lactic acidosis hypertrophic cardiomyopathy, dysmorphic features and methylglutaconic aciduria, mental retardation and early death
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
	neurology
Type	disease

Gene product

Name	ATP synthase mitochondrial F1 complex assembly factor 2

Remark(s)