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FLASH GENE

Symbol

MT-ND6

contributors: shn - updated : 13-11-2012

HGNC name	mitochondrially encoded NADH dehydrogenase 6
HGNC id	7462

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

LHON , MTENC2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       Leber's hereditary optic neuropathy (LHON) is associated with the mitochondrial ND6 T14484C mutation in three Chinese families

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Mice with mtDNA ND6 P25L mutation display reduction in retinal function by elecroretinogram, age-related decline in central smaller caliber optic nerve fibers with sparing of larger peripheral fibers, neuronal accumulation of abnormal mitochondria, axonal swelling, and demyelination mostly due to oxidative stress