RP2 : RP2 activator of ARL3 GTPase


Description

The RP2 (RP2 activator of ARL3 GTPase) is a protein-coding gene located on chromosome X.

The RP2 gene provides instructions for making a protein that is essential for normal vision. The RP2 protein is active in cells throughout the body, including cells that make up the light-sensitive tissue at the back of the eye (the retina). However, the function of the RP2 protein is not well understood. Studies suggest that it may be involved in transporting proteins within the retina's specialized light receptor cells (photoreceptors). Its role in other types of cells is unknown.

RP2 acts as a GTPase-activating protein (GAP) involved in transporting proteins between the Golgi apparatus and the ciliary membrane. It aids in localizing proteins like NPHP3 to the cilium membrane by triggering the hydrolysis of GTP-bound ARL3, leading to the release of UNC119 (or UNC119B). RP2 also functions as a GAP for tubulin alongside tubulin-specific chaperone C, but it doesn't enhance tubulin heterodimerization. Additionally, it acts as a guanine nucleotide dissociation inhibitor for ADP-ribosylation factor-like proteins.

RP2 is also known as DELXp11.3, NM23-H10, NME10, TBCCD2, XRP2.

Associated Diseases


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