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GENATLAS PHENOTYPE

last update : 16-10-2010

Symbol	NDUFS1
Location	2q33.3
Name	mitochondrial complex 1 deficiency
Corresponding gene	NDUFS1
related resource	MITOP database
Main clinical features	leukodystrophy, nystagmus, optic atrophy macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy
Genetic determination	autosomal recessive
Related entries	. Leigh syndrome including lactic acidosis due to defect in iron/sulfur cluster of complex 1
Function/system disorder	metabolism/lipoprotein-lipid
	eye
	neurology
Type	disease

Gene product

Name	NADH dehydrogenase (ubiquinone) Fe-S protein 1

Remark(s)

. mutations in NDUFS1 cause a disturbance in the assembly and/or stability of complex I (PMID: 20382551))