BBS10
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Template:Short description Template:Infobox gene Bardet–Biedl syndrome 10, also known as BBS10 is a human gene.[1]
Function
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.[2][3]
Clinical significance
Mutations in this gene are associated with the Bardet–Biedl syndrome.[1]
References
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Further reading
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External links
- GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome
- Template:Replace at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Template:UCSC gene info