| 1 | ARCL4A, ATP6V1A, ATP6V1E1, CDG2S
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| Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
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| Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung KCP, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA.
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| Am J Hum Genet Aug 6;107(2):374. doi: 10.1016/j.ajhg.2020.07.013 2020
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| 2 | ARCL4A, ATP6V1A, ATP6V1E1, CDG2S
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| Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
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| Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BH, Mak CC, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PK, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA.
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| Am J Hum Genet 100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010.
2017
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| 3 | ATP6V1E1, CECR2, CES, SLC25A18
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| A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
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| Knijnenburg J, van Bever Y, Hulsman LO, van Kempen CA, Bolman GM, van Loon RL, Beverloo HB, van Zutven LJ.
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| Eur J Hum Genet 20(9):986-9. doi: 10.1038/ejhg.2012.43. Epub 2012 Mar 7.
2012
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| 4 | ATP6V1A, ATP6V1E1
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| V-ATPase expression in the mouse olfactory epithelium.
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| Paunescu TG, Jones AC, Tyszkowski R, Brown D.
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| Am J Physiol Cell Physiol 295(4):C923-30. doi: 10.1152/ajpcell.00237.2008.
2008
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| 5 | ATP6V1E1
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| Defective assembly of a hybrid vacuolar H(+)-ATPase containing the mouse testis-specific E1 isoform and yeast subunits.
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| Hayashi K, Sun-Wada GH, Wada Y, Nakanishi-Matsui M, Futai M.
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| Biochim Biophys Acta 1777(10):1370-7. doi: 10.1016/j.bbabio.2008.06.011.
2008
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| 6 | ATP6V1E2, ATP6V1E1
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| A human gene, ATP6E1, encoding a testis-specific isoform of H(+)-ATPase subunit E.
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| Imai-Senga Y, Sun-Wada GH, Wada Y, Futai M.
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| Gene 289(1-2):7-12. 2002
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| 7 | ATP6V1E1
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| The amino-terminal domain of the E subunit of vacuolar H(+)-ATPase (V-ATPase) interacts with the H subunit and is required for V-ATPase function.
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| Lu M, Vergara S, Zhang L, Holliday LS, Aris J, Gluck SL.
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| J Biol Chem 277(41):38409-15.
2002
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| 8 | ADA2, ATP6V1E1, BID, CECR2, CECR3, CECR4, CECR5, CECR6, CECR7, CECR8, CECR9, CES, SLC25A18
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| Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere.
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| Footz TK, Brinkman-Mills P, Banting GS, Maier SA, Riazi MA, Bridgland L, Hu S, Birren B, Minoshima S, Shimizu N, Pan H, Nguyen T, Fang F, Fu Y, Ray L, Wu H, Shaull S, Phan S, Yao Z, Chen F, Huan A, Hu P, Wang Q, Loh P, Qi S, Roe BA, McDermid HE.
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| Genome Res 11(6):1053-70. 2001
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| 9 | ADPRTL4, ADTB1L1, ADTB1L2, ALG12, APOL2, ARHGAP8, ATP6V1E1, BCRL2, BCRL3, BCRL4, BCRL5, BCRL6, BRD1, CBX6, CBY1, CSF2RB2, DRG1, FAM108A5, FAM115B, HMG17L1, HMG17L2, HMGB1L10, INPP5J, MAFF, MAPK11, MPPED1, OSBP2, P2RX6, PATZ1, PITPNB, PPIL2, PRAME, PTPNS1L, RBX1, RHBDD3, RPL32L2, SBF1, SDF2L1, SEZ6L, SFI1, SH3BP1, SNAP29, TBC1D22A, TMEM184B, TOP3B2, TSSK1A, YME1L2, ZNF280A, ZNF280B
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| The DNA sequence of human chromosome 22.
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| Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP, et al.
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| Nature 402(6761):489-95. 1999
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| 10 | ATP6AP1,ATP6V0A4,ATP6V0B,ATP6V0C,ATP6V0D1,ATP6V0E1,ATP6V1A,ATP6V1B1,ATP6V1B2,ATP6V1C1,ATP6V1D,ATP6V1E1,ATP6V1F,ATP6V1G1,ATP6V1G2,ATP6V1G3
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| Structure and properties of the vacuolar (H+)-ATPases.
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| Forgac M.
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| J Biol Chem 274(19):12951-4. Review. No abstract available. 1999
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| 11 | ATP6AP1,ATP6V0A4,ATP6V0B,ATP6V0D1,ATP6V0E1,ATP6V1A,ATP6V1B1,ATP6V1B2,ATP6V1C1,ATP6V1D,ATP6V1E1,ATP6V1F,ATP6V1G1,ATP6V1G2,ATP6V1G3
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| Vacuolar and plasma membrane proton-adenosinetriphosphatases.
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| Nelson N, Harvey WR.
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| Physiol Rev 79(2):361-85. Review. 1999
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| 12 | ATP6AP1,ATP6V0A4,ATP6V0B,ATP6V0C,ATP6V0D1,ATP6V0E1,ATP6V1A,ATP6V1B1,ATP6V1B2,ATP6V1C1,ATP6V1D,ATP6V1D,ATP6V1E1,ATP6V1F,ATP6V1G1,ATP6V1G2,ATP6V1G3
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| Structure, function and regulation of the vacuolar (H+)-ATPase.
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| Stevens TH, Forgac M.
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| Annu Rev Cell Dev Biol 13:779-808. Review. 1997
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| 13 | ATP6AP1,ATP6V0A4,ATP6V0B,ATP6V0C,ATP6V0D1,ATP6V0E1,ATP6V1A,ATP6V1B1,ATP6V1B2,ATP6V1C1,ATP6V1D,ATP6V1E1,ATP6V1F,ATP6V1G1,ATP6V1G2,ATP6V1G3
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| The vacuolar H+-ATPase: a universal proton pump of eukaryotes.
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| Finbow ME, Harrison MA.
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| Biochem J 324 ( Pt 3):697-712. Review. 1997
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| 14 | ATP6V1E1
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| The E subunit of vacuolar H+ -ATPase localizes close to the centromere on human chromosome 22.
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| Baud V, et al.
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| Hum Mol Genet 3 : 335-339. 1994
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| 15 | ATP6V0D1, ATP6V1C1, ATP6V1E1
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| Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase.
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| van Hille B, Vanek M, Richener H, Green JR, Bilbe G.
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| Biochem Biophys Res Commun 197(1):15-21. 1993
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