Recombinant Human Lebercilin protein (His-DHFR tag N-Terminus)

Supplementary information

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

Lebercilin also known as LCA5 protein is a protein with a molecular mass of approximately 81 kDa. It functions mechanically in sensory cilia playing a role in ciliary structure and stability. Expressed primarily in the retina and specifically in photoreceptor cells Lebercilin is essential for maintaining photoreceptor integrity in the eyes. The expression profile indicates its significance in tissues involved in light perception and visual processing.

Biological function summary

Lebercilin is fundamental for normal photoreceptor function and survival. It associates with the photoreceptor sensory cilium complex where it interacts with other ciliary proteins to support their assembly and function. Its role in maintaining the structural framework of the cilia ensures effective signal transduction critical for visual processing. Disruptions in Lebercilin or its interactions can compromise photoreceptor health and lead to retinal disorders.

Pathways

LCA5 gene encoding Lebercilin contributes significantly to the phototransduction and ciliopathy pathways. Within these pathways Lebercilin interacts with proteins like RPGR and CEP290 which are key players in maintaining ciliary transport and phototransduction processes. These interactions ensure the proper trafficking of molecules necessary for light signal conversion and photoreceptor performance suggesting an integrated role in visual signal pathways.

Dysfunction of Lebercilin is connected with retinal diseases such as Leber congenital amaurosis (LCA) and retinitis pigmentosa. Mutations in LCA5 gene severely disrupt Lebercilin function leading to early-onset visual impairment. The association of Lebercilin with proteins like CRX and RPGR highlights its role in genetic ocular disorders making it an important target for understanding inherited retinal dystrophies and developing potential therapeutic interventions.