Gene Review:
BBS10 - Bardet-Biedl syndrome 10
Homo sapiens
Synonyms:
Bardet-Biedl syndrome 10 protein, C12orf58, FLJ23560
- BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Stoetzel, C., Laurier, V., Davis, E.E., Muller, J., Rix, S., Badano, J.L., Leitch, C.C., Salem, N., Chouery, E., Corbani, S., Jalk, N., Vicaire, S., Sarda, P., Hamel, C., Lacombe, D., Holder, M., Odent, S., Holder, S., Brooks, A.S., Elcioglu, N.H., Da Silva, E., Rossillion, B., Sigaudy, S., de Ravel, T.J., Alan Lewis, R., Leheup, B., Verloes, A., Amati-Bonneau, P., Mégarbané, A., Poch, O., Bonneau, D., Beales, P.L., Mandel, J.L., Katsanis, N., Dollfus, H. Nat. Genet. (2006)
- Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome. Stoetzel, C., Muller, J., Laurier, V., Davis, E.E., Zaghloul, N.A., Vicaire, S., Jacquelin, C., Plewniak, F., Leitch, C.C., Sarda, P., Hamel, C., de Ravel, T.J., Lewis, R.A., Friederich, E., Thibault, C., Danse, J.M., Verloes, A., Bonneau, D., Katsanis, N., Poch, O., Mandel, J.L., Dollfus, H. Am. J. Hum. Genet. (2007)
- Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. White, D.R., Ganesh, A., Nishimura, D., Rattenberry, E., Ahmed, S., Smith, U.M., Pasha, S., Raeburn, S., Trembath, R.C., Rajab, A., Macdonald, F., Banin, E., Stone, E.M., Johnson, C.A., Sheffield, V.C., Maher, E.R. Eur. J. Hum. Genet. (2007)