関連性BBS10 belongs to the TCP-1 chaperonin family. It is a probable molecular chaperone; assist the folding of proteins upon ATP hydrolysis.
Defects in BBS10 are the cause of Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation.
細胞内局在Cell projection; cilium. Note: Located within the basal body of the primary cilium of differentiating preadipocytes.