BBS4
Bardet-Biedl syndrome 4 protein is a protein that in humans is encoded by the BBS4 gene.[1][2][3]
This gene encodes a protein which contains tetratricopeptide repeats (TPR), similar to O-linked N-acetylglucosamine transferase. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 4. The encoded protein may play a role in pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation.[3]
Interactions
BBS4 has been shown to interact with DCTN1.[4]
External Links
References
- ^ Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC (May 1995). "Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15". Hum Mol Genet 4 (1): 9–13. doi:10.1093/hmg/4.1.9. PMID 7711739.
- ^ Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC (May 2001). "Identification of the gene that, when mutated, causes the human obesity syndrome BBS4". Nat Genet 28 (2): 188–91. doi:10.1038/88925. PMID 11381270.
- ^ a b "Entrez Gene: BBS4 Bardet-Biedl syndrome 4". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=585.
- ^ Kim, Jun Chul; Badano Jose L, Sibold Sonja, Esmail Muneer A, Hill Josephine, Hoskins Bethan E, Leitch Carmen C, Venner Kerrie, Ansley Stephen J, Ross Alison J, Leroux Michel R, Katsanis Nicholas, Beales Philip L (May. 2004). "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression". Nat. Genet. (United States) 36 (5): 462–70. doi:10.1038/ng1352. ISSN 1061-4036. PMID 15107855.
Further reading
- Haftek J, Krawczykowa Z, Stankiewicz A et al. (1975). "[Ocular manifestations in orbital fractures]". Klinika oczna 45 (6): 655–9. PMID 1138127.
- Bruford EA, Riise R, Teague PW et al. (1997). "Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21". Genomics 41 (1): 93–9. doi:10.1006/geno.1997.4613. PMID 9126487.
- Katsanis N, Eichers ER, Ansley SJ et al. (2002). "BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance". Am. J. Hum. Genet. 71 (1): 22–9. doi:10.1086/341031. PMC 384990. PMID 12016587. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=384990.
- Riise R, Tornqvist K, Wright AF et al. (2002). "The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene". Arch. Ophthalmol. 120 (10): 1364–7. PMID 12365916.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "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.
- 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. PMID 12872256.
- 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.
- Kim JC, Badano JL, Sibold S et al. (2004). "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression". Nat. Genet. 36 (5): 462–70. doi:10.1038/ng1352. PMID 15107855.
- 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.
- Ye X, Dai J, Fang W et al. (2005). "Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4)". DNA Seq. 15 (3): 213–8. PMID 15497446.
- 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. PMID 16189514.