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Zhou, V. ATP6V0A2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4813 (accessed on 29 September 2026).
Zhou V. ATP6V0A2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4813. Accessed September 29, 2026.
Zhou, Vicky. "ATP6V0A2 Gene" Encyclopedia, https://encyclopedia.pub/entry/4813 (accessed September 29, 2026).
Zhou, V. (2020, December 24). ATP6V0A2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4813
Zhou, Vicky. "ATP6V0A2 Gene." Encyclopedia. Web. 24 December, 2020.
ATP6V0A2 Gene
Edit

ATPase H+ transporting V0 subunit a2

genes

References

  1. Guillard M, Dimopoulou A, Fischer B, Morava E, Lefeber DJ, Kornak U, WeversRA. Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. BiochimBiophys Acta. 2009 Sep;1792(9):903-14. doi: 10.1016/j.bbadis.2008.12.009.
  2. Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A,Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M,Türkmen S, Tuysuz B, Yüksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, UrbanZ. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking,tropoelastin secretion and cell survival. Hum Mol Genet. 2009 Jun15;18(12):2149-65. doi: 10.1093/hmg/ddp148.
  3. Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group, Lefeber D, Urban Z,Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, MatthijsG, Van Maldergem L, Mundlos S. Impaired glycosylation and cutis laxa caused bymutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet. 2008Jan;40(1):32-4.
  4. Marshansky V, Futai M. The V-type H+-ATPase in vesicular trafficking:targeting, regulation and function. Curr Opin Cell Biol. 2008 Aug;20(4):415-26.doi: 10.1016/j.ceb.2008.03.015.
  5. Marshansky V. The V-ATPase a2-subunit as a putative endosomal pH-sensor.Biochem Soc Trans. 2007 Nov;35(Pt 5):1092-9. Review.
  6. Morava E, Lefeber DJ, Urban Z, de Meirleir L, Meinecke P, Gillessen KaesbachG, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner HG, Wevers RA. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J HumGenet. 2008 Jan;16(1):28-35.
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Update Date: 24 Dec 2020
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