Profil protéine

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather 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. Mutations in this gene cause Bardet-Biedl syndrome type 10.

Gene names and symbols associated with BBS10

• Bardet-Biedl syndrome 10 (BBS10) anticorps
• Bardet-Biedl syndrome 10 L homeolog (bbs10.L) anticorps
• Bardet-Biedl syndrome 10 (bbs10) anticorps
• Bardet-Biedl syndrome 10 (Bbs10) anticorps
• Bardet-Biedl syndrome 10 (human) (Bbs10) anticorps

• 1300007O09Rik anticorps
• AI452285 anticorps
• C12orf58 anticorps
• MGC84945 anticorps
• RGD1560748 anticorps
• Afficher tous les alias de synonymes
• si:dkey-30c15.16 anticorps

Protein level used designations for BBS10

Bardet-Biedl syndrome 10 , Chaperonin Containing TCP-1 family member (cct-1)-like , Bardet-Biedl syndrome 10 protein , Bardet-Biedl syndrome 10 protein homolog