Bardet-Biedl syndrome 10
Zuletzt aktualisiert 18. Aug 2020
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Der BBS10 gene provides instructions for making a protein that is found in many types of cells. The BBS10 protein is part of a group (complex) of proteins that functions as a chaperonin. Chaperonins help fold other proteins into their correct 3-dimensional shapes so they can perform their usual functions in the body.
Normal function
Der BBS10 gene provides instructions for making a protein that is found in many types of cells. The BBS10 protein is part of a group (complex) of proteins that functions as a chaperonin. Chaperonins help fold other proteins into their correct 3-dimensional shapes so they can perform their usual functions in the body.
Studies suggest that the BBS10 protein helps fold or stabilize certain proteins that are necessary for the normal formation of 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
BBS10_HUMAN
C12orf58
FLJ23560
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Weiterführende Lektüre und Referenzen
- Bardet-Biedl syndrome 10; MedlinePlus, National Library of Medicine.
- 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/
- Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Megarbane A, Mandel JL, Dollfus H. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. Eur J Hum Genet. 2006 Nov;14(11):1195-203. doi: 10.1038/sj.ejhg.5201688. Epub 2006 Jul 5.
- Marion V, Stoetzel C, Schlicht D, Messaddeq N, Koch M, Flori E, Danse JM, Mandel JL, Dollfus H. Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci U S A. 2009 Feb 10;106(6):1820-5. doi: 10.1073/pnas.0812518106. Epub 2009 Feb 3.
- 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.
- 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.
- Seo S, Baye LM, Schulz NP, Beck JS, Zhang Q, Slusarski DC, Sheffield VC. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc Natl Acad Sci U S A. 2010 Jan 26;107(4):1488-93. doi: 10.1073/pnas.0910268107. Epub 2010 Jan 4.
- Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Megarbane A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet. 2006 May;38(5):521-4. doi: 10.1038/ng1771. Epub 2006 Apr 2.
- 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.
- White DR, Ganesh A, Nishimura D, Rattenberry E, Ahmed S, Smith UM, Pasha S, Raeburn S, Trembath RC, Rajab A, Macdonald F, Banin E, Stone EM, Johnson CA, Sheffield VC, Maher ER. Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. Eur J Hum Genet. 2007 Feb;15(2):173-8. doi: 10.1038/sj.ejhg.5201736. Epub 2006 Nov 15.
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18. Aug 2020 | Neueste Version
1 May 2010 | Ursprünglich veröffentlicht
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