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Gene Review

Bbs4  -  Bardet-Biedl syndrome 4 (human)

Mus musculus

Synonyms: AW537059, AW742241, Bardet-Biedl syndrome 4 protein homolog, D9Ertd464e
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Disease relevance of Bbs4


High impact information on Bbs4


  1. Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Mykytyn, K., Mullins, R.F., Andrews, M., Chiang, A.P., Swiderski, R.E., Yang, B., Braun, T., Casavant, T., Stone, E.M., Sheffield, V.C. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  2. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Kulaga, H.M., Leitch, C.C., Eichers, E.R., Badano, J.L., Lesemann, A., Hoskins, B.E., Lupski, J.R., Beales, P.L., Reed, R.R., Katsanis, N. Nat. Genet. (2004) [Pubmed]
  3. Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. Eichers, E.R., Abd-El-Barr, M.M., Paylor, R., Lewis, R.A., Bi, W., Lin, X., Meehan, T.P., Stockton, D.W., Wu, S.M., Lindsay, E., Justice, M.J., Beales, P.L., Katsanis, N., Lupski, J.R. Hum. Genet. (2006) [Pubmed]
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