Recombinant Human CEP104 protein

Supplementary info

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

Activity summary

CEP104 also called centrosomal protein 104 is involved in microtubule organization and ciliogenesis. It weighs approximately 93 kDa. The expression of CEP104 is present within centrosomes structures important for microtubule nucleation and anchoring especially during cell division. In addition to centrosomes CEP104 is also found in cilia small hair-like projections on cells essential for movement and signaling.

Biological function summary

CEP104 helps manage cilia length and stability. As a part of the microtubule-associated complex it interacts with proteins like CP110 and CEP97 to regulate ciliogenesis. This regulation ensures proper cilia function which is important for signal transduction pathways and fluid movement across epithelial surfaces. The interaction with CP110 inhibits cilia formation which occurs when the cell does not require fully assembled cilia.

Pathways

CEP104 plays a role in signaling and structural pathways associated with cilia and centrosomes. It is important in the Hedgehog signaling pathway relating closely to proteins such as GLI transcription factors which facilitate cell differentiation and tissue patterning. This pathway engagement is key for maintaining critical cellular processes that depend on the signaling active on these structures.

Associated diseases and disorders

Defects in CEP104 relate to ciliopathies including Joubert syndrome which affects brain and physical development. CEP104 mutations may disrupt its interaction with CP110 leading to abnormal cilia formation and function. Such anomalies underline the connection between CEP104 and diseases that result from dysfunctional cilia highlighting its significance in maintaining normal cellular activities and overall health.