Reviewed May 2010
What is the official name of the BBS10 gene?
The official name of this gene is “Bardet-Biedl syndrome 10.”
BBS10 is the gene's official symbol. The BBS10 gene is also known by other names, listed below.
What is the normal function of the BBS10 gene?
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 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).
How are changes in the BBS10 gene related to health conditions?
- Bardet-Biedl syndrome - associated with the BBS10 gene
More than 35 mutations in the BBS10 gene have been found to cause Bardet-Biedl syndrome. Mutations in this gene account for about 20 percent of all cases of the disorder.
Some BBS10 gene mutations change single protein building blocks (amino acids) in the BBS10 protein, while other mutations add or delete genetic material in the BBS10 gene. The most common BBS10 gene mutation, which is written as C91fsX95, leads to the production of an abnormally short version of the BBS10 protein.
Researchers are studying how mutations in the BBS10 gene lead to the specific features of Bardet-Biedl syndrome. A malfunctioning BBS10 protein appears to 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 BBS10 gene located?
Cytogenetic Location: 12q21.2
Molecular Location on chromosome 12: base pairs 76,344,486 to 76,348,442
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/79738))
The BBS10 gene is located on the long (q) arm of chromosome 12 at position 21.2.
More precisely, the BBS10 gene is located from base pair 76,344,486 to base pair 76,348,442 on chromosome 12.
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 BBS10?
You and your healthcare professional may find the following resources about BBS10 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=%28BBS10%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/610148)
Research Resources - Tools for researchers
- HGNC Gene Family: Bardet-Biedl syndrome associated (http://www.genenames.org/cgi-bin/genefamilies/set/980)
- HGNC Gene Family: Chaperonins (http://www.genenames.org/cgi-bin/genefamilies/set/587)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=26291)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/79738)
What other names do people use for the BBS10 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 BBS10?
You may find definitions for these and many other terms in the Genetics Home Reference
- 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, Mégarbané 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. Epub 2006 Jul 5. (http://www.ncbi.nlm.nih.gov/pubmed/16823392?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/19190184?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)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/79738)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/20080638?dopt=Abstract)
- 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, Mégarbané 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. Epub 2006 Apr 2. Erratum in: Nat Genet. 2006 Jun;38(6):727. Da Silva, Eduardo [corrected to Silva, Eduardo D]. (http://www.ncbi.nlm.nih.gov/pubmed/16582908?dopt=Abstract)
- 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. Epub 2006 Nov 15. (http://www.ncbi.nlm.nih.gov/pubmed/17106446?dopt=Abstract)
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.