Reviewed May 2010
What is the official name of the BBS1 gene?
The official name of this gene is “Bardet-Biedl syndrome 1.”
BBS1 is the gene's official symbol. The BBS1 gene is also known by other names, listed below.
What is the normal function of the BBS1 gene?
The 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).
How are changes in the BBS1 gene related to health conditions?
- Bardet-Biedl syndrome - associated with the BBS1 gene
More than 30 mutations in the BBS1 gene have been identified in people with Bardet-Biedl syndrome. Mutations in this gene are the most common cause of Bardet-Biedl syndrome, accounting for about one-quarter of all cases.
Most BBS1 gene mutations change single protein building blocks (amino acids) in the BBS1 protein or lead to the production of an abnormally short version of the protein. The most common mutation replaces the amino acid methionine with the amino acid arginine at protein position 390 (written as Met390Arg or M390R).
Mutations in the BBS1 gene likely affect the normal formation and function of cilia. Defects in these cell structures probably disrupt important chemical signaling pathways during development and lead to abnormalities of sensory perception. Researchers believe that defective cilia are responsible for most of the features of Bardet-Biedl syndrome, including vision loss, obesity, the presence of extra fingers and/or toes (polydactyly), kidney abnormalities, and intellectual disability.
Where is the BBS1 gene located?
Cytogenetic Location: 11q13
Molecular Location on chromosome 11: base pairs 66,510,648 to 66,533,613
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/582))
The BBS1 gene is located on the long (q) arm of chromosome 11 at position 13.
More precisely, the BBS1 gene is located from base pair 66,510,648 to base pair 66,533,613 on chromosome 11.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about BBS1?
You and your healthcare professional may find the following resources about BBS1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28BBS1%5BTIAB%5D%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/209901)
Research Resources - Tools for researchers
- HGNC Gene Family: Bardet-Biedl syndrome associated (http://www.genenames.org/cgi-bin/genefamilies/set/980)
- HGNC Gene Family: BBSome (http://www.genenames.org/cgi-bin/genefamilies/set/1122)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=966)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/582)
What other names do people use for the BBS1 gene or gene products?
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding BBS1?
amino acid ;
You may find definitions for these and many other terms in the Genetics Home Reference
- 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. Epub 2003 Apr 3. (http://www.ncbi.nlm.nih.gov/pubmed/12677556?dopt=Abstract)
- Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé 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, Cossée 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. (http://www.ncbi.nlm.nih.gov/pubmed/20177705?dopt=Abstract)
- 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, Lüleci 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. Epub 2003 Jan 10. (http://www.ncbi.nlm.nih.gov/pubmed/12524598?dopt=Abstract)
- Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Lüleci 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. Epub 2002 Jul 15. (http://www.ncbi.nlm.nih.gov/pubmed/12118255?dopt=Abstract)
- Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peränen 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. (http://www.ncbi.nlm.nih.gov/pubmed/17574030?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/582)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.