Bardet-Biedl syndrome 1
Senast uppdaterad 18 aug 2020
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Den BBS1 gene provides instructions for making a protein found in cells throughout the body. The BBS1 protein is part of a group (complex) of proteins that plays a critical role in the formation of cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia are also necessary for the perception of sensory input (such as sight, hearing, and smell).
Normal function
Den BBS1 gene provides instructions for making a protein found in cells throughout the body. The BBS1 protein is part of a group (complex) of proteins that plays a critical role in the formation of cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia are also necessary for the perception of sensory input (such as sight, hearing, and smell).
Conditions referring to this gene or chromosome
Other names
BBS1_HUMAN
BBS2L2
FLJ23590
Related patient information and medicines
Patient information leaflet
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Vidare läsning och referenser
- Bardet-Biedl syndrome 1; MedlinePlus, National Library of Medicine.
- Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet. 2003 May;72(5):1187-99. doi: 10.1086/375178. Epub 2003 Apr 3.
- Forsyth R, Gunay-Aygun M. Bardet-Biedl Syndrome Overview. 2003 Jul 14 [updated 2023 Mar 23]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1363/
- Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Helle S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossee M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804-9. Epub 2010 Feb 23.
- Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, Cornier AS, Cox GF, Fulton AB, Carmi R, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, Hennekam RC, Luleci G, Berker-Karauzum S, Biesecker LG, Stone EM, Sheffield VC. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet. 2003 Feb;72(2):429-37. doi: 10.1086/346172. Epub 2003 Jan 10.
- Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Luleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet. 2002 Aug;31(4):435-8. doi: 10.1038/ng935. Epub 2002 Jul 15.
- Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell. 2007 Jun 15;129(6):1201-13. doi: 10.1016/j.cell.2007.03.053.
- Pomeroy JJ, Richards J, Sweeney BR, Kumar S, Queen KE, Zaritsky J, Cramer CH, Traboulsi EI, Scruggs BA, Davis EE, Keifer E, McGibbon E, Ogden T, De Graaf B, Hymers T, Forsythe E, Beales P. Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria. Am J Med Genet A. 2026 Oct;200(10):2181-2198. doi: 10.1002/ajmg.a.70199. Epub 2026 May 23.
- Tomlinson JW. Bardet-Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction. Diabetes Obes Metab. 2024 Apr;26 Suppl 2:13-24. doi: 10.1111/dom.15480. Epub 2024 Feb 1.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 May 2010 | Ursprungligen publicerad
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