BBsome
Encyclopedia
The BBSome is a component of the basal body
and is involved in formation of the primary cilium. The BBSome is a complex of seven Bardet–Biedl syndrome (BBS) proteins: BBS1
, BBS2
, BBS4
, BBS5
, BBS7
, BBS8 and BBS9
. In addition the BBSome contains the BBIP10 protein. The BBSome was first identified in 2007 by Peter K. Jackson and colleagues.
and BBS12
. In addition chaperonins of the CCT/TRiC family are involved.
Basal body
A basal body is an organelle formed from a centriole, and a short cylindrical array of microtubules. It is found at the base of a eukaryotic undulipodium and serves as a nucleation site for the growth of the axoneme microtubules...
and is involved in formation of the primary cilium. The BBSome is a complex of seven Bardet–Biedl syndrome (BBS) proteins: BBS1
BBS1
Bardet-Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene.-External Links:* -Further reading:...
, BBS2
BBS2
Bardet-Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.-External Links:* -Further reading:...
, BBS4
BBS4
Bardet-Biedl syndrome 4 protein is a protein that in humans is encoded by the BBS4 gene.This gene encodes a protein which contains tetratricopeptide repeats , similar to O-linked N-acetylglucosamine transferase. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 4...
, BBS5
BBS5
Bardet-Biedl syndrome 5 protein is a protein that in humans is encoded by the BBS5 gene.-External Links:* -Further reading:...
, BBS7
BBS7
Bardet-Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.Mutations in this gene are associated with the Bardet-Biedl syndrome.- External links :*...
, BBS8 and BBS9
BBS9
Bardet-Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.The expression of the Bardet-Biedl syndrome 9 protein is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones.Mutations in this gene...
. In addition the BBSome contains the BBIP10 protein. The BBSome was first identified in 2007 by Peter K. Jackson and colleagues.
Assembly
BBSome assembly has been shown to be mediated by a complex containing a further three BBS proteins: BBS6, BBS10BBS10
Bardet-Biedl syndrome 10, also known as BBS10 is a human gene.- Function :The Bardet-Biedl syndrome 10 protein 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...
and BBS12
BBS12
Bardet-Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 gene.Mutations in this gene are associated with the Bardet-Biedl syndrome.- External Links :*...
. In addition chaperonins of the CCT/TRiC family are involved.