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Orphanet References OMIM Gene GeneReviews HGMD HGNC
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
    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))