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Bardet-Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2gene.[1][2]
This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 2. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation, and mental retardation.[2]
References
↑Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC (Apr 2001). "Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)". Hum Mol Genet. 10 (8): 865–74. doi:10.1093/hmg/10.8.865. PMID11285252.
Kwitek-Black AE, Carmi R, Duyk GM, et al. (1994). "Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity". Nat. Genet. 5 (4): 392–6. doi:10.1038/ng1293-392. PMID8298649.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID8889548.
Beales PL, Reid HA, Griffiths MH, et al. (2001). "Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome". Nephrol. Dial. Transplant. 15 (12): 1977–85. doi:10.1093/ndt/15.12.1977. PMID11096143.
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. PMID11567139.
Badano JL, Kim JC, Hoskins BE, et al. (2003). "Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus". Hum. Mol. Genet. 12 (14): 1651–9. doi:10.1093/hmg/ddg188. PMID12837689.
Hoskins BE, Thorn A, Scambler PJ, Beales PL (2004). "Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique". Hum. Mutat. 22 (2): 151–7. doi:10.1002/humu.10241. PMID12872256.
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. PMID14702039.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID16189514.
