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URL of this page: https://medlineplus.gov/genetics/gene/bbs1/

BBS1 gene

Bardet-Biedl syndrome 1

Normal Function

The BBS1 gene provides instructions for making a protein that is 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 a type of cilia called 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 processes, including cell growth and division (proliferation), cell specialization (differentiation), and the activity of certain genes.

The protein complex that includes the BBS1 protein is called the BBSome. The BBSome helps sort and transport proteins within the primary cilia. These proteins are critical for the proper formation 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 BBS1 gene can cause Bardet-Biedl syndrome 1. Bardet-Biedl syndrome is a rare, inherited disorder that affects many parts of the body. Pathogenic variants in the BBS1 gene are the most common cause of Bardet-Biedl syndrome, accounting for about 23 percent of all cases.

Many of the BBS1 variants that cause Bardet-Biedl syndrome 1 result in the substitution of one protein building block (amino acid) for another in the BBS1 protein, while other variants cause cells to produce an abnormally short version of the protein.

These protein changes can impair the activity of the BBSome and affect the normal formation and function of primary cilia. Changes in these cell structures probably disrupt important signaling pathways during development. This contributes to the features of Bardet-Biedl syndrome, including vision loss, weight gain, and kidney abnormalities.

More About This Health Condition

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Other Names for This Gene

  • FLJ23590

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

  • 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. Citation on PubMed or Free article on PubMed Central
  • 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
  • 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
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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
  • 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

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