Species Human Entrez 79738 | Human Mouse Ensembl ENSG00000179941 | |
Aliases BBS10, C12orf58, Bardet-Biedl syndrome 10 External IDs MGI: 1919019 HomoloGene: 49781 GeneCards: BBS10 | ||
Bardet-Biedl syndrome 10, also known as BBS10 is a human gene.
Contents
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.
Clinical significance
Mutations in this gene are associated with the Bardet-Biedl syndrome.
References
BBS10 Wikipedia(Text) CC BY-SA