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Gene Review

BBS4  -  Bardet-Biedl syndrome 4

Homo sapiens

Synonyms: Bardet-Biedl syndrome 4 protein
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Disease relevance of BBS4


Psychiatry related information on BBS4


High impact information on BBS4


Biological context of BBS4


Anatomical context of BBS4


Associations of BBS4 with chemical compounds

  • Intron/exon boundaries were identified, and myosin IXA DNA and RNA from BBS4 patients were evaluated for mutation [11].

Other interactions of BBS4


  1. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Mykytyn, K., Braun, T., Carmi, R., Haider, N.B., Searby, C.C., Shastri, M., Beck, G., Wright, A.F., Iannaccone, A., Elbedour, K., Riise, R., Baldi, A., Raas-Rothschild, A., Gorman, S.W., Duhl, D.M., Jacobson, S.G., Casavant, T., Stone, E.M., Sheffield, V.C. Nat. Genet. (2001) [Pubmed]
  2. The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. Riise, R., Tornqvist, K., Wright, A.F., Mykytyn, K., Sheffield, V.C. Arch. Ophthalmol. (2002) [Pubmed]
  3. Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene. Iannaccone, A., Mykytyn, K., Persico, A.M., Searby, C.C., Baldi, A., Jablonski, M.M., Sheffield, V.C. Am. J. Med. Genet. A (2005) [Pubmed]
  4. The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Kim, J.C., Badano, J.L., Sibold, S., Esmail, M.A., Hill, J., Hoskins, B.E., Leitch, C.C., Venner, K., Ansley, S.J., Ross, A.J., Leroux, M.R., Katsanis, N., Beales, P.L. Nat. Genet. (2004) [Pubmed]
  5. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Mykytyn, K., Nishimura, D.Y., Searby, C.C., Shastri, M., Yen, H.J., Beck, J.S., Braun, T., Streb, L.M., Cornier, A.S., Cox, G.F., Fulton, A.B., Carmi, R., Lüleci, G., Chandrasekharappa, S.C., Collins, F.S., Jacobson, S.G., Heckenlively, J.R., Weleber, R.G., Stone, E.M., Sheffield, V.C. Nat. Genet. (2002) [Pubmed]
  6. 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]
  7. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Katsanis, N., Eichers, E.R., Ansley, S.J., Lewis, R.A., Kayserili, H., Hoskins, B.E., Scambler, P.J., Beales, P.L., Lupski, J.R. Am. J. Hum. Genet. (2002) [Pubmed]
  8. Significant association between a silent polymorphism in the neuromedin B gene and body weight in German children and adolescents. Oeffner, F., Bornholdt, D., Ziegler, A., Hinney, A., Görg, T., Gerber, G., Goldschmidt, H.P., Siegfried, W., Wright, A., Hebebrand, J., Grzeschik, K.H. Acta diabetologica. (2000) [Pubmed]
  9. Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4). Ye, X., Dai, J., Fang, W., Jin, W., Guo, Y., Song, J., Ji, C., Gu, S., Xie, Y., Mao, Y. DNA Seq. (2004) [Pubmed]
  10. Intrafamilial variation of the phenotype in Bardet-Biedl syndrome. Riise, R., Andréasson, S., Borgaström, M.K., Wright, A.F., Tommerup, N., Rosenberg, T., Tornqvist, K. The British journal of ophthalmology. (1997) [Pubmed]
  11. The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23. Gorman, S.W., Haider, N.B., Grieshammer, U., Swiderski, R.E., Kim, E., Welch, J.W., Searby, C., Leng, S., Carmi, R., Sheffield, V.C., Duhl, D.M. Genomics (1999) [Pubmed]
  12. Human and mouse ISLR (immunoglobulin superfamily containing leucine-rich repeat) genes: genomic structure and tissue expression. Nagasawa, A., Kudoh, J., Noda, S., Mashima, Y., Wright, A., Oguchi, Y., Shimizu, N. Genomics (1999) [Pubmed]
  13. Rapid communication: the human FEM1B gene maps to chromosome 15q22 and is excluded as the gene for Bardet-Biedl syndrome, type 4. Ventura-Holman, T., Haider, N.B., Maher, J.F. Am. J. Med. Sci. (2000) [Pubmed]
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