Recombinant Human B9D2 protein

Supplementary information

This supplementary information is collated from multiple sources and compiled automatically.

B9D2 also known as Bardet-Biedl Syndrome 9 Protein is a component involved in ciliary function. This protein has a mass of approximately 25 kDa. Its expression occurs notably in a variety of tissues including the retina and brain which indicates a potential role in sensory and neural activities. B9D2 participates in preserving the integrity of ciliary structures and plays a mechanical role in maintaining cellular architecture.

Biological function summary

B9D2 plays a role in the assembly and stability of the BBSome complex an important component for cilia function. The BBSome complex is essential for the trafficking of signaling proteins to the cilia which are vital for cellular signaling pathways. The proper function of B9D2 within this complex marks its significant influence on cellular communication networks and organismal development.

Pathways

B9D2 is integral to the Sonic Hedgehog signaling pathway and interacts significantly within this developmental signaling route. This pathway has critical implications for cell differentiation and tissue patterning. B9D2 interacts with other proteins such as BBS1 and BBS2 which are also part of the BBSome. These interactions highlight its role in affecting pathways that govern normal cellular functioning and development.

B9D2 is closely associated with Bardet-Biedl Syndrome (BBS) a disorder characterized by retinal degeneration obesity and polydactyly. This syndrome results from defects in the BBSome complex where B9D2 alongside proteins like BBS1 plays an integral part. Mutations or disruptions in B9D2 function can lead to improper ciliary function contributing to the manifestations of BBS. Understanding these linkages broadens our insights into potential therapeutic targets for managing such ciliopathies.