| 释义 |
- Interactions
- References
- Further reading
- External links
{{Infobox_gene}}Bardet-Biedl syndrome 4 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] References 1. ^{{cite journal | vauthors = Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC | title = Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15 | journal = Human Molecular Genetics | volume = 4 | issue = 1 | pages = 9–13 | date = Jan 1995 | pmid = 7711739 | pmc = | doi = 10.1093/hmg/4.1.9 }}
2. ^{{cite journal | vauthors = 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 | title = Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 | journal = Nature Genetics | volume = 28 | issue = 2 | pages = 188–91 | date = Jun 2001 | pmid = 11381270 | pmc = | doi = 10.1038/88925 }}
3. ^1 {{cite web | title = Entrez Gene: BBS4 Bardet-Biedl syndrome 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=585| accessdate = }}
4. ^{{cite journal | vauthors = Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL | title = The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression | journal = Nature Genetics | volume = 36 | issue = 5 | pages = 462–70 | date = May 2004 | pmid = 15107855 | doi = 10.1038/ng1352 }}
{{Clear}} Further reading {{refbegin | 2}}- {{cite journal | vauthors = Haftek J, Krawczykowa Z, Stankiewicz A, Araszkiewicz H, Goś R, Kasprzak H | title = [Ocular manifestations in orbital fractures] | journal = Klinika Oczna | volume = 45 | issue = 6 | pages = 655–9 | date = Jun 1975 | pmid = 1138127 | doi = }}
- {{cite journal | vauthors = Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF | title = Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21 | journal = Genomics | volume = 41 | issue = 1 | pages = 93–9 | date = Apr 1997 | pmid = 9126487 | doi = 10.1006/geno.1997.4613 }}
- {{cite journal | vauthors = Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR | title = BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance | journal = American Journal of Human Genetics | volume = 71 | issue = 1 | pages = 22–9 | date = Jul 2002 | pmid = 12016587 | pmc = 384990 | doi = 10.1086/341031 }}
- {{cite journal | vauthors = Riise R, Tornqvist K, Wright AF, Mykytyn K, Sheffield VC | title = The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene | journal = Archives of Ophthalmology | volume = 120 | issue = 10 | pages = 1364–7 | date = Oct 2002 | pmid = 12365916 | doi = 10.1001/archopht.120.10.1364 }}
- {{cite journal | vauthors = Hoskins BE, Thorn A, Scambler PJ, Beales PL | title = Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique | journal = Human Mutation | volume = 22 | issue = 2 | pages = 151–7 | year = 2004 | date = Aug 2003 | pmid = 12872256 | doi = 10.1002/humu.10241 }}
- {{cite journal | vauthors = Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL | title = The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression | journal = Nature Genetics | volume = 36 | issue = 5 | pages = 462–70 | date = May 2004 | pmid = 15107855 | doi = 10.1038/ng1352 }}
- {{cite journal | vauthors = Ye X, Dai J, Fang W, Jin W, Guo Y, Song J, Ji C, Gu S, Xie Y, Mao Y | title = Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4) | journal = DNA Sequence | volume = 15 | issue = 3 | pages = 213–8 | year = 2005 | date = Jun 2004 | pmid = 15497446 | doi = 10.1080/10425170410001679165 }}
- {{cite journal|authorlink30=Huda Zoghbi | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = Oct 2005 | pmid = 16189514 | doi = 10.1038/nature04209 }}
{{refend}} External links - [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome]
- {{UCSC gene info|BBS4}}
{{Ciliary proteins}}{{gene-15-stub}} |