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FLASH GENE

Symbol

MT-ND5

contributors: mct - updated : 30-06-2015

HGNC name	mitochondrially encoded NADH dehydrogenase 5
HGNC id	7461

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

LHON , MELAS , MTENC2 , MERRF , MTLEMS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       (DNA deletion) in skeletal muscle of MNGIE, (mitochondrial neurogastrointestinal encephalomyopathy) constitutional germinal mutation       in idiopathic Parkinson disease constitutional germinal mutation       heteroplasmic T>C transition at position 13271 affects a highly conserved base and segregates with isolated exercise intolerance

Susceptibility

to maternally inherited hypertrophic cardiomyopathy

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS