Photoreceptor cilium actin regulator (PCARE)

Photoreceptor cilium actin regulator (PCARE), formerly known as C2orf71, is a retina-specific ciliary protein crucial for the formation and maintenance of photoreceptor outer segment disks. PCARE functions by recruiting actin-regulatory proteins, such as the Arp2/3 complex activator WASF3 (WAVE3), to the primary cilium, enabling actin dynamics-driven expansion of the ciliary tip and facilitating outer segment disk morphogenesis in rod and cone cells. Mutations in PCARE cause autosomal recessive retinitis pigmentosa (RP54) and occasionally cone-rod dystrophy, characterized by progressive photoreceptor degeneration and vision loss. PCARE localizes predominantly at the base of the photoreceptor outer segment, where it orchestrates protein complex assembly necessary for photoreceptor disk formation. It does not belong to classic drug target protein families such as receptors, enzymes, or ion channels, and no pharmacological agents or drugs directly modulate it[1][2][3].

Other names

C2orf71RP54FLJ34931uncharacterized protein C2orf71photoreceptor cilium actin regulatorPCARE