Recombinant Human Bardet-Biedl syndrome 10 protein (BBS10)

Uniprot Id

Q8TAM1

Target Species

Human

Target Name

BBS10

Target Full Name

BBSome complex assembly protein BBS10

Target Function

Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis. Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation.

Target Involvement

Bardet-Biedl syndrome 10 (BBS10)

Target Subcellular Location

Cell projection, cilium.

Target Protein Families

TCP-1 chaperonin family

Target Synonyms

BBS10; C12orf58Bardet-Biedl syndrome 10 protein

Target Background

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 cognitive disability. 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.