Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide		OMIM	UCSC

Home Page

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

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

HOMOLOGY

interspecies	ortholog to ATP6, Rattus norvegicus
	ortholog to ATP6, Danio rerio
	ortholog to ATP6, Mus musculus

Homologene

FAMILY

ATPase A chain family, complex V subunit

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION

highly hydrophobic protein of the respiratory chain complex V, involved in ATP synthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

oxydative phosphorylation

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

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