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URL of this page: https://medlineplus.gov/genetics/gene/bbs10/

BBS10 gene

Bardet-Biedl syndrome 10

Normal Function

The 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 shape so that they can perform their functions in the body.

Studies suggest that the BBS10 protein helps fold or stabilize proteins that are necessary for the normal formation and function of primary cilia. Cilia are microscopic, finger-like projections that stick out from the surface of most cells. Primary cilia transmit signals from the outside of the cell to the inside. They are necessary for the perception of sensory input (such as sight, hearing, and smell) and are involved in signaling pathways that help regulate many important processes, including cell growth and division (proliferation), cell specialization (differentiation), and the activity of certain genes.

The BBS10 protein is involved in the assembly of the BBSome, which is the protein complex that helps sort and transport proteins within the primary cilia. This movement of proteins is crucial for the proper development and function of primary cilia.

Health Conditions Related to Genetic Changes

Bardet-Biedl syndrome

Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the BBS10 gene can cause Bardet-Biedl syndrome 10. Bardet-Biedl syndrome is a rare, inherited disorder that affects many parts of the body. Pathogenic variants in the BBS10 gene account for about 15 percent of all cases of Bardet-Biedl syndrome.

The pathogenic variants in the BBS10 gene that are associated with Bardet-Biedl syndrome 10 cause cells to make a version of the BBS10 protein that does not function properly. The altered proteins likely disrupt the assembly of the BBSome, which impairs the development and function of primary cilia. This leads to changes in signaling pathways during development, which likely contributes to various features of Bardet-Biedl syndrome, including vision loss, weight gain, and kidney abnormalities.

More About This Health Condition

Other Names for This Gene

  • FLJ23560

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • 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/ Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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 May 23. doi: 10.1002/ajmg.a.70199. Online ahead of print. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed

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