ATP Synthase 6 (ATP6)

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MT-ATP6; RP; MTATP6; ATPase-6; Su6m; Mitochondrially Encoded ATP Synthase 6; F-ATPase protein 6

ATP Synthase 6 (ATP6)
Defects in MT-ATP6 are the cause of neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) . Defects in MT-ATP6 are a cause of Leber hereditary optic neuropathy (LHON). LHON is a maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. Defects in MT-ATP6 are a cause of Leigh syndrome (LS). LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions.Defects in MT-ATP6 are a cause of infantile bilateral striatal necrosis . Bilateral striatal necrosis is a neurological disorder resembling Leigh syndrome.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant ATP Synthase 6 (ATP6)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to ATP Synthase 6 (ATP6)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to ATP Synthase 6 (ATP6)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for ATP Synthase 6 (ATP6)CLIA Kit Customized Service Offer
n/aELISA Kit for ATP Synthase 6 (ATP6)ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant ATP Synthase 6 (ATP6)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to ATP Synthase 6 (ATP6)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to ATP Synthase 6 (ATP6)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for ATP Synthase 6 (ATP6)CLIA Kit Customized Service Offer
n/aELISA Kit for ATP Synthase 6 (ATP6)ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant ATP Synthase 6 (ATP6)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to ATP Synthase 6 (ATP6)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to ATP Synthase 6 (ATP6)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for ATP Synthase 6 (ATP6)CLIA Kit Customized Service Offer
n/aELISA Kit for ATP Synthase 6 (ATP6)ELISA Kit Customized Service Offer
  1. "Sequence and organization of the human mitochondrial genome."Nature 290:457-465(1981) [PubMed] [Europe PMC] [Abstract]
  2. "Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs."Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995) [PubMed] [Europe PMC] [Abstract]
  3. "Mitochondrial genome variation and the origin of modern humans."Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract]
  4. "Major genomic mitochondrial lineages delineate early human expansions."BMC Genet. 2:13-13(2001) [PubMed] [Europe PMC] [Abstract]
  5. "Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America."Am. J. Hum. Genet. 71:187-192(2002) [PubMed] [Europe PMC] [Abstract]
  6. "Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography."BMC Genet. 4:15-15(2003) [PubMed] [Europe PMC] [Abstract]
  7. "Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines."Genome Res. 13:1600-1606(2003) [PubMed] [Europe PMC] [Abstract]
  8. "Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J."Mol. Biol. Evol. 20:2132-2142(2003) [PubMed] [Europe PMC] [Abstract]
  9. "Natural selection shaped regional mtDNA variation in humans."Proc. Natl. Acad. Sci. U.S.A. 100:171-176(2003) [PubMed] [Europe PMC] [Abstract]
  10. "Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences."Am. J. Hum. Genet. 73:671-676(2003) [PubMed] [Europe PMC] [Abstract]
  11. "The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool." Am. J. Hum. Genet. 75:910-918(2004) [PubMed] [Europe PMC] [Abstract]
  12. "Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia."Am. J. Hum. Genet. 75:966-978(2004) [PubMed] [Europe PMC] [Abstract]
  13. "Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians."Int. J. Legal Med. 118:137-146(2004) [PubMed] [Europe PMC] [Abstract]
  14. "Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of native american haplogroups."Ann. Hum. Genet. 69:67-89(2005) [PubMed] [Europe PMC] [Abstract]
  15. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  16. "Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy."Science 242:1427-1430(1988) [PubMed] [Europe PMC] [Abstract]
  17. "A new mitochondrial disease associated with mitochondrial DNA heteroplasmy."Am. J. Hum. Genet. 46:428-433(1990) [PubMed] [Europe PMC] [Abstract]
  18. "Normal variants of human mitochondrial DNA and translation products: the building of a reference data base."Hum. Genet. 88:139-145(1991) [PubMed] [Europe PMC] [Abstract]
  19. "A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome."Ann. Neurol. 34:410-412(1993) [PubMed] [Europe PMC] [Abstract]
  20. "A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy."Am. J. Hum. Genet. 56:1238-1240(1995) [PubMed] [Europe PMC] [Abstract]
  21. "A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis."Ann. Neurol. 38:468-472(1995) [PubMed] [Europe PMC] [Abstract]
  22. "Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA."Neurology 49:595-597(1997) [PubMed] [Europe PMC] [Abstract]
  23. "De novo mtDNA nt 8993 (T-G) mutation resulting in Leigh syndrome."Am. J. Hum. Genet. 62:717-719(1998) [PubMed] [Europe PMC] [Abstract]
  24. "Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene."J. Inherit. Metab. Dis. 21:2-8(1998) [PubMed] [Europe PMC] [Abstract]
  25. "Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome."Nucleic Acids Res. 26:967-973(1998) [PubMed] [Europe PMC] [Abstract]
  26. "Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation."Ann. Neurol. 58:337-340(2005) [PubMed] [Europe PMC] [Abstract]
  27. "Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation."J. Med. Genet. 44:797-799(2007) [PubMed] [Europe PMC] [Abstract]