BBS1


Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene.
BBS1 is part of the BBSome complex, which required for ciliogenesis.
Mutations in this gene have been observed in patients with the major form of Bardet–Biedl syndrome.

History

, research results indicated that the encoded protein may play a role in eye, limb, cardiac and reproductive system development.