BBS1
MIM.209901 11q13
BBS1 is a member of the Ras superfamily of small GTP-binding proteins.
Pathology
germline mutation in Bardet-Biedl syndrome (BBS) (MIM.209900)
Pathogenesis
The loss of BBS1 not only impedes ciliary function, which manifests as established ciliary phenotypes (for example, retinal dystrophy, situs inversus and cystic kidneys), but also perturbs dendritic transport.
This might explain some of the neuronal phenotypes seen not only in BBS, but also in other established centrosomal disorders, such as Alstrom syndrome, or suspected centrosomal or basal body disorders (by virtue of phenotypic overlap) such as Cohen syndrome and Meckel-Gruber syndrome.