ABCB7 p.Glu433Lys

Predicted by SNAP2: A: D (66%), C: D (71%), D: N (57%), F: D (80%), G: D (75%), H: D (80%), I: D (80%), K: D (85%), L: D (80%), M: D (59%), N: D (80%), P: D (91%), Q: D (71%), R: D (85%), S: D (71%), T: D (71%), V: D (75%), W: D (85%), Y: D (80%),
Predicted by PROVEAN: A: D, C: D, D: N, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Liesa M, Qiu W, Shirihai OS
Mitochondrial ABC transporters function: the role of ABCB10 (ABC-me) as a novel player in cellular handling of reactive oxygen species.
Biochim Biophys Acta. 2012 Oct;1823(10):1945-57. doi: 10.1016/j.bbamcr.2012.07.013. Epub 2012 Aug 3., [PMID:22884976]

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[hide] Gonzalez-Cabo P, Bolinches-Amoros A, Cabello J, Ros S, Moreno S, Baylis HA, Palau F, Vazquez-Manrique RP
Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegans.
J Biol Chem. 2011 Jun 17;286(24):21304-14. Epub 2011 Apr 4., [PMID:21464130]

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[hide] Ye H, Rouault TA
Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.
Biochemistry. 2010 Jun 22;49(24):4945-56., [PMID:20481466]

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[hide] Camaschella C
Recent advances in the understanding of inherited sideroblastic anaemia.
Br J Haematol. 2008 Oct;143(1):27-38. Epub 2008 Jul 14., [PMID:18637800]

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[hide] Pondarre C, Campagna DR, Antiochos B, Sikorski L, Mulhern H, Fleming MD
Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.
Blood. 2007 Apr 15;109(8):3567-9. Epub 2006 Dec 27., [PMID:17192398]

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[hide] Cavadini P, Biasiotto G, Poli M, Levi S, Verardi R, Zanella I, Derosas M, Ingrassia R, Corrado M, Arosio P
RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload.
Blood. 2007 Apr 15;109(8):3552-9. Epub 2006 Dec 27., [PMID:17192393]

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[hide] Maguire A, Hellier K, Hammans S, May A
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.
Br J Haematol. 2001 Dec;115(4):910-7., [PMID:11843825]

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[hide] Bekri S, Kispal G, Lange H, Fitzsimons E, Tolmie J, Lill R, Bishop DF
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.
Blood. 2000 Nov 1;96(9):3256-64., [PMID:11050011]

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