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
Corresponding disease
LHON Leber hereditary optic neuropathy
MTCMH10 cardiomyopathy hypertrophic 10, neonatal
NARP neuropathy, ataxia and retinitis pigmentosa
SNE1 subacute necrotizing encephalopathy 1, Leigh syndrome
Location mt      Physical location : -
Synonym name
  • F0F1 ATPase subunit 6
  • ATP synthase F0 subunit 6
  • ATP synthase 6
  • spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit
    • Synonym symbol(s) ATPase-6, ATPase 6/8, MTATP6, ATP6, Su6m
    EC.number 3.6.1.14
    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