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Gene Review: 

BBS5  -  Bardet-Biedl syndrome 5

Homo sapiens

Synonyms: Bardet-Biedl syndrome 5 protein, DKFZp762I194
 
 
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High impact information on BBS5

  • We then applied this resource to the study of human ciliation disorders and have identified BBS5, a novel gene for Bardet-Biedl syndrome [1].
  • Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene [1].
  • Six families were excluded from all four known BBS loci, indicating that there is at least a fifth BBS locus (BBS5) [2].

References

  1. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Li, J.B., Gerdes, J.M., Haycraft, C.J., Fan, Y., Teslovich, T.M., May-Simera, H., Li, H., Blacque, O.E., Li, L., Leitch, C.C., Lewis, R.A., Green, J.S., Parfrey, P.S., Leroux, M.R., Davidson, W.S., Beales, P.L., Guay-Woodford, L.M., Yoder, B.K., Stormo, G.D., Katsanis, N., Dutcher, S.K. Cell (2004) [Pubmed]
  2. Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. Woods, M.O., Young, T.L., Parfrey, P.S., Hefferton, D., Green, J.S., Davidson, W.S. Genomics (1999) [Pubmed]
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