Anti-TTC21A/STI2 antibody [EPR17437]

Supplementary info

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

Activity summary

TTC21A also known as STI2 is a protein with a mass of approximately 145 kDa. It functions as a component of the intraflagellar transport system which is essential for the maintenance and function of cilia. TTC21A is expressed in various tissues with significant expression in the kidney and lungs. This protein plays a role in stabilizing microtubules and aiding the movement of protein complexes along the cilia's axoneme.

Biological function summary

TTC21A plays an important role in ciliogenesis and the maintenance of ciliary structure. It is part of the intraflagellar transport complex which includes proteins such as IFT-A and IFT-B. This complex is essential for the bidirectional movement of molecules along the cilia which is important for their sensory and signaling functions. By interacting with other IFT proteins TTC21A ensures proper assembly and disassembly of ciliary components.

Pathways

TTC21A is involved in the Hedgehog signaling pathway which is important for embryonic development and tissue regeneration. During this process TTC21A interacts with proteins such as Smoothened (SMO) and Patched (PTCH) to regulate signal transmission. Moreover TTC21A is connected to the Wnt signaling pathway which has critical roles in cell proliferation and differentiation. The interaction with Dishevelled (DVL) proteins within this pathway highlights its importance in maintaining cellular communication.

Associated diseases and disorders

Defects in TTC21A are associated with nephronophthisis and Jeune syndrome. Nephronophthisis a kidney disorder involves abnormal ciliary function where TTC21A's interaction with nephrocystin proteins is compromised. In Jeune syndrome a skeletal dysplasia TTC21A's role in ciliary function impacts the development of bone and cartilage. These diseases highlight TTC21A's importance in developmental processes and highlight the critical nature of its interactions within cellular pathways.