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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
DNA
TYPE functioning gene
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    SystemTypeDisorderPubmed
    mitochondrial disease  
    selenite could be considered as a potential therapeutic agent of NARP syndrome
    ANIMAL & CELL MODELS