Disease-gene associations mined from literature

Literature associating ARL3 and retinitis pigmentosa 2

ARL3 [ENSP00000260746]

ADP-ribosylation factor-like protein 3; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase- activating proteins (GAP) . Required for normal cytokinesis and cilia signaling . Requires assistance from GTPase-activating proteins (GAPs) like RP2 and PDE6D, in order to cycle between inactive GDP-bound and active GTP-bound forms. Required for targeting proteins to the cilium, including myristoylated NPHP3 and prenylated INPP5E . Targets NPHP3 to the ciliary membrane by releasing myristoylated NPHP3 from UNC119B cargo adapter into the cilium . Required for PKD1:PKD2 complex targeting from the trans-Golgi network to the cilium (By similarity). ECO:0000269|PubMed:16525022, ECO:0000269|PubMed:18588884,

Synonyms:  ARL3,  ARL3p,  hARL3,  P36405,  P36405p ...

Linkouts:  STRING  Pharos  UniProt  OMIM