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FLASH GENE

Symbol

MT-ATP6

contributors: mct/npt/shn - updated : 25-04-2012

HGNC name	mitochondrially encoded ATP synthase 6
HGNC id	7414

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SNE1 , NARP , LHON , MTCMH10

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         a T->G transversion at nt 8993 in mitochondrial DNA of MT-ATP6 causes impaired mitochondrial ATP synthesis in two related mitochondrial disorders : neuropathy, ataxia and retinitis pigmentosa and maternally inherited Leigh syndrome tumoral     --low   in prostate tumor

Susceptibility

to schizophrenia

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed mitochondrial disease     selenite could be considered as a potential therapeutic agent of NARP syndrome

ANIMAL & CELL MODELS