Retinitis pigmentosa 1 protein (RP1)

Retinitis pigmentosa 1 protein (RP1) is a photoreceptor-specific, microtubule-associated protein encoded by the RP1 gene, a member of the doublecortin family[1][5][6]. It binds microtubules through its N-terminal doublecortin domains, regulating microtubule polymerization and stabilizing the axoneme structure of photoreceptor cells in the retina[1][3][5][6]. RP1 is essential for the correct stacking of outer segment discs and the morphogenesis of rod and cone photoreceptors, maintaining retinal function and visual capacity[1][4][6]. Mutations in RP1 disrupt these processes, causing autosomal dominant and autosomal recessive forms of retinitis pigmentosa characterized by progressive degeneration of photoreceptor cells and visual impairment[2][4][6]. RP1 mutations are a significant cause of hereditary retinal dystrophy, and dysfunction of this protein links retinal degeneration to the wider class of microtubule-associated protein-related neurodegenerative disorders[6]. RP1 is not a traditional small molecule therapeutic target (such as a receptor or enzyme), nor are there known drugs that directly interact with it for clinical intervention[5][6].

Other names

Oxygen-regulated protein 1ORP1DCDC4ADoublecortin domain-containing 4ARetinitis pigmentosa RP1 proteinRetinitis pigmentosa 1 (autosomal dominant)RP1 axonemal microtubule associated