+ Filter
Loading...
BBS1
Anti-BBS1 Recombinant Antibody Products
CompareCan't find the products you're looking for? Try to filter in the left sidebar.Filter By Tag
More Infomation
Our customer service representatives are available 24 hours a day, from Monday to Sunday. Contact Us
For Research Use Only. Not For Clinical Use.
Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development.
Protein class
Disease related genes, Human disease related genes
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Excitatory neurons, Inhibitory neurons, Astrocytes, Microglial cells, Oligodendrocyte precursor cells)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with the C-terminus of RAB3IP. Interacts with CCDC28B and ALDOB. Interacts with PKD1 (PubMed:24939912).
More Types Infomation