BBS7
Protein-coding gene in the species Homo sapiens
Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene .[ 5]
Mutations in this gene are associated with the Bardet–Biedl syndrome .[ 5]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000138686 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037325 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (March 2003). "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. doi :10.1086/368204 . PMC 1180240 PMID 12567324 .
Further reading
Oeffner F, Moch C, Neundorf A, et al. (2008). "Novel interaction partners of Bardet-Biedl syndrome proteins". Cell Motil. Cytoskeleton . 65 (2): 143– 55. doi :10.1002/cm.20250 . PMID 18000879 . Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4" . Nature . 434 (7034): 724– 31. Bibcode :2005Natur.434..724H . doi :10.1038/nature03466 PMID 15815621 . Nachury MV, Loktev AV, Zhang Q, et al. (2007). "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis" . Cell . 129 (6): 1201– 13. doi :10.1016/j.cell.2007.03.053 PMID 17574030 . S2CID 11917072 . Chung WK, Patki A, Matsuoka N, et al. (2009). "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. doi :10.1159/000181158 . PMC 2715950 PMID 19077438 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121– 7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40– 5. doi :10.1038/ng1285 PMID 14702039 . Yang Z, Yang Y, Zhao P, et al. (2008). "A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family" . Mol. Vis . 14 : 2304– 8. PMC 2603185 PMID 19093007 . Katsanis N, Ansley SJ, Badano JL, et al. (2001). "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder". Science . 293 (5538): 2256– 9. Bibcode :2001Sci...293.2256K . doi :10.1126/science.1063525 . PMID 11567139 . S2CID 41822166 . Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Bin J, Madhavan J, Ferrini W, et al. (2009). "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. doi :10.1002/humu.21040 . PMID 19402160 . S2CID 11446097 .
External links
