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FB2026_01
,
released March 12, 2026
A number of mitochondrial diseases are associated with defects in the human mitochondrially-encoded MT-ND2 gene ( NADH:ubiquinone oxidoreductase core subunit 2); see MIM:516001, Allelic Variants section or table. There is a single fly ortholog, Dmel\mt:ND2, for which loss-of-function mutations and RNAi-targeting constructs have been generated.
The human MT-ND2 gene has not been introduced into flies. Other diseases associated with MT-ND2 include Leigh syndrome, MT-ND2-related (FBhh0000385) and Leber hereditary optic neuropathy, MT-ND2-related (FBhh0000384; MIM:535000).
One of the phenotypes described for Dmel\mt:ND2 is bang-sensitivity (FBcv:0000391), a phenotype similar to seizure sensitivity in humans; see the human disease model report for epilepsy (FBhh0000268). Several other fly genes characterized as models of mitochondrial disease also exhibit bang-sensitive phenotypes, including sesB (see mitochondrial myopathy, SLC25A4(ANT1)-related, FBhh0000372), mt:ATPase6 (see mitochondrial complex V disorders, MT-ATP6-related, FBhh0000376), and Ttc19 (see mitochondrial complex III deficiency, nuclear type 2, FBhh0000369).
Adult flies homozygous for a loss-of-function allele of Dmel\mt:ND2 exhibit progressive phenotypes of bang sensitivity and locomotor defects; brains of aged adults exhibit a neurodegenerative phenotype.
[updated Jul. 2020 by FlyBase; FBrf0222196]
Mitochondrial complex I deficiency causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, and liver disease. [from MIM:252010; 2016.08.12]
Some mitochondrial disorders affect a single organ (eye or ear, for example), but most involve multiple organ systems and often present with prominent neurologic and myopathic features. [Gene Reviews, Primary Mitochondrial Disorders Overview]
MT-ND2 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2) is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). Complex I functions in the transfer of electrons from NADH to the respiratory chain. [from Gene Cards, MT-ND2; 2016.08.26]
One to one: 1 human to 1 Drosophila.
High-scoring ortholog of human mitochondrial gene MT-ND2 (1 Drosophila to 1 human). Dmel\mt:ND2 shares 61% identity and 42% similarity with human gene.