BBS7
From Wikipedia, the free encyclopedia
| Bardet-Biedl syndrome 7 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | BBS7; BBS2L1; FLJ10715 | ||||||||||||
| External IDs | OMIM: 607590 MGI: 1918742 HomoloGene: 12395 GeneCards: BBS7 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 55212 | 71492 | |||||||||||
| Ensembl | ENSG00000138686 | ENSMUSG00000037325 | |||||||||||
| UniProt | Q8IWZ6 | Q8K2G4 | |||||||||||
| RefSeq (mRNA) | NM_018190.3 | NM_027810.3 | |||||||||||
| RefSeq (protein) | NP_060660.2 | NP_082086.2 | |||||||||||
| Location (UCSC) | Chr 4: 122.75 – 122.79 Mb |
Chr 3: 36.47 – 36.51 Mb |
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| PubMed search | [1] | [2] | |||||||||||
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]
[edit] References
- ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1180240.
[edit] 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. 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.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2715950.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2603185.
- Katsanis N, Ansley SJ, Badano JL, et al. (2001). "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.". Science 293 (5538): 2256–9. doi:10.1126/science.1063525. PMID 11567139.
- 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- 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.
[edit] External links
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