Literature associating RP2 and Joubert syndrome 3
Retinitis pigmentosa 2 (X-linked recessive); Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins; Belongs to the TBCC family.
Synonyms: RP2, RP2p, hRP2, O75695, RP2-001 ...