ITEM#: 3042-HPA022957100UL
MFR#: HPA022957-100UL
B9D1 (B9 protein domain 1) is a component of the B9 or tectonic complex. The complex is present at the ciliary transition zone. Mutations in B9D1 result in mild Joubert syndrome, a ciliopathic defect. The gene is mapped to human chromosome 17p11.