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Gene Review

SPTBN2  -  spectrin, beta, non-erythrocytic 2

Homo sapiens

Synonyms: Beta-III spectrin, GTRAP41, KIAA0302, SCA5, SCAR14, ...
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Disease relevance of SPTBN2


High impact information on SPTBN2


Biological context of SPTBN2


Anatomical context of SPTBN2


  1. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Gros-Louis, F., Dupr??, N., Dion, P., Fox, M.A., Laurent, S., Verreault, S., Sanes, J.R., Bouchard, J.P., Rouleau, G.A. Nat. Genet. (2007) [Pubmed]
  2. Spectrin mutations cause spinocerebellar ataxia type 5. Ikeda, Y., Dick, K.A., Weatherspoon, M.R., Gincel, D., Armbrust, K.R., Dalton, J.C., Stevanin, G., Dürr, A., Zühlke, C., Bürk, K., Clark, H.B., Brice, A., Rothstein, J.D., Schut, L.J., Day, J.W., Ranum, L.P. Nat. Genet. (2006) [Pubmed]
  3. A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles. Stankewich, M.C., Tse, W.T., Peters, L.L., Ch'ng, Y., John, K.M., Stabach, P.R., Devarajan, P., Morrow, J.S., Lux, S.E. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  4. beta III spectrin binds to the Arp1 subunit of dynactin. Holleran, E.A., Ligon, L.A., Tokito, M., Stankewich, M.C., Morrow, J.S., Holzbaur, E.L. J. Biol. Chem. (2001) [Pubmed]
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