BBS10
| BBS10 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | BBS10, C12orf58, Bardet-Biedl syndrome 10 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 610148; MGI: 1919019; HomoloGene: 49781; GeneCards: BBS10; OMA:BBS10 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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BBSome complex assembly protein BBS10, also known as Bardet–Biedl syndrome 10 protein, is encoded in the human by the BBS10 gene.[5][6]
Function
[edit]The Bardet-Biedl syndrome 10 protein has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes.[7][8]
Clinical significance
[edit]Mutations in this gene are associated with the Bardet–Biedl syndrome.[6]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000179941 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035759 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "UniProt". UniProt. Retrieved 17 June 2026.
- 1 2 Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, et al. (May 2006). "BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus". Nature Genetics. 38 (5): 521–524. doi:10.1038/ng1771. PMID 16582908. S2CID 32269156.
- ↑ "Entrez Gene: Bardet-Biedl syndrome 10".
- ↑ Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Further reading
[edit]- Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, et al. (January 2007). "Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome". American Journal of Human Genetics. 80 (1): 1–11. doi:10.1086/510256. PMC 1785304. PMID 17160889.
- Gerth C, Zawadzki RJ, Werner JS, Héon E (2008). "Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography". Vision Research. 48 (3): 392–399. doi:10.1016/j.visres.2007.08.024. PMC 2584151. PMID 17980398.
- White DR, Ganesh A, Nishimura D, Rattenberry E, Ahmed S, Smith UM, et al. (February 2007). "Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10". European Journal of Human Genetics. 15 (2): 173–178. doi:10.1038/sj.ejhg.5201736. PMID 17106446.
- Dollfus H, Muller J, Stoetzel C, Laurier V, Bonneau D, Mégarbané A, et al. (November 2006). "[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]". Medecine Sciences. 22 (11): 901–904. doi:10.1051/medsci/20062211901. PMID 17101080.
- Marion V, Stoetzel C, Schlicht D, Messaddeq N, Koch M, Flori E, et al. (February 2009). "Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation". Proceedings of the National Academy of Sciences of the United States of America. 106 (6): 1820–1825. Bibcode:2009PNAS..106.1820M. doi:10.1073/pnas.0812518106. PMC 2635307. PMID 19190184.
- Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, et al. (November 2006). "Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism". European Journal of Human Genetics. 14 (11): 1195–1203. doi:10.1038/sj.ejhg.5201688. PMID 16823392.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
External links
[edit]- GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome
- Bbs10 protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Human BBS10 genome location and BBS10 gene details page in the UCSC Genome Browser.
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