Purified anti-Arl13b Antibody, Arl13b, N295B-66,BioLegend,857601

The ADP-ribosylation factor (Arf)-like small GTPase Arl13b is a small GTPase mainly found in primary cilia of neuroeptithelial cells, radial glial cells and fibroblast. TheArl13bnull mice display multiple structural defects in the neural tube, limbs, and eyes. Loss of Arl13b function is associated with impaired sonic hedgehog signaling, disrupted cilia polarity and scaffold in radial progenitor cells. Three mutations in humanArl13bgene have been identified in Joubert Syndrom (JS) patients, two of which are located in the GTP-binding sensitive switch region, known as switch 2 region. Consistent with the mutant phenotype in the mouse null allele, Joubert syndrome patients are characterized with neural, ocular and renal defects, and mental retardation. Multiple studies have suggested that the role of Arl13b in ciliogenesis is mediated by the sonic hedgehog signaling.Recently, Arl13b was also shown to mediate endocytic trafficking of CD1a, an MHC-class 1 like antigen presenting molecule which presents lipids rather proteins. Loss of Arl13b causes the clustering of early endosomes and accumulation of endocytic cargos. In this process, Arl13 colocalizes with 2 other endocytic markers, Arf2 and Rab22a, and may interact with actin cytoskeleton.