BBS7 explained
Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.[1]
Mutations in this gene are associated with the Bardet–Biedl syndrome.[1]
Further reading
- Oeffner F, Moch C, Neundorf A . Novel interaction partners of Bardet-Biedl syndrome proteins. . Cell Motil. Cytoskeleton . 65 . 2 . 143–55 . 2008 . 18000879 . 10.1002/cm.20250 . et al.
- Hillier LW, Graves TA, Fulton RS . Generation and annotation of the DNA sequences of human chromosomes 2 and 4. . Nature . 434 . 7034 . 724–31 . 2005 . 15815621 . 10.1038/nature03466 . 2005Natur.434..724H . etal. free .
- Nachury MV, Loktev AV, Zhang Q . A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. . Cell . 129 . 6 . 1201–13 . 2007 . 17574030 . 10.1016/j.cell.2007.03.053 . 11917072 . etal. free .
- Chung WK, Patki A, Matsuoka N . Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. . Hum. Hered. . 67 . 3 . 193–205 . 2009 . 19077438 . 10.1159/000181158 . 2715950 . et al.
- Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . et al.
- Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . et al. free .
- Yang Z, Yang Y, Zhao P . A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. . Mol. Vis. . 14 . 2304–8 . 2008 . 19093007 . 2603185 . et al.
- Katsanis N, Ansley SJ, Badano JL . Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. . Science . 293 . 5538 . 2256–9 . 2001 . 11567139 . 10.1126/science.1063525 . 2001Sci...293.2256K . 41822166 . et al.
- Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . et al. free .
- Bin J, Madhavan J, Ferrini W . BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. . Hum. Mutat. . 30 . 7 . E737–46 . 2009 . 19402160 . 10.1002/humu.21040 . 11446097 . et al.
External links
Notes and References
- Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N . Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2 . Am. J. Hum. Genet. . 72 . 3 . 650–8 . March 2003 . 12567324 . 1180240 . 10.1086/368204 .
