Genomes and Genes
Gene Symbol: arl13b
Description: ADP-ribosylation factor-like 13b
Alias: arl2l1, chunp6872, fc23g07, wu:fc23g07, zgc:123149, ADP-ribosylation factor-like protein 13B, ADP-ribosylation factor-like 2-like 1, ADP-ribosylation factor-like protein 2-like 1, ARL2-like protein 1, protein scorpion, scorpion, un-named hi459, unm hi459
- Bachmann Gagescu R, Phelps I, Stearns G, Link B, Brockerhoff S, Moens C, et al. The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking. Hum Mol Genet. 2011;20:4041-55 pubmed publisher..Our data support a model where Cc2d2a, localized at the photoreceptor connecting cilium/transition zone, facilitates protein transport through a role in Rab8-dependent vesicle trafficking and fusion. ..
- Seixas C, Choi S, Polgar N, Umberger N, East M, Zuo X, et al. Arl13b and the exocyst interact synergistically in ciliogenesis. Mol Biol Cell. 2016;27:308-20 pubmed publisherb>Arl13b belongs to the ADP-ribosylation factor family within the Ras superfamily of regulatory GTPases...
- Song P, Dudinsky L, Fogerty J, Gaivin R, Perkins B. Arl13b Interacts With Vangl2 to Regulate Cilia and Photoreceptor Outer Segment Length in Zebrafish. Invest Ophthalmol Vis Sci. 2016;57:4517-26 pubmed publisherMutations in the gene ARL13B cause the classical form of Joubert syndrome, an autosomal recessive ciliopathy with variable degrees of retinal degeneration...
- Navis A, Marjoram L, Bagnat M. Cftr controls lumen expansion and function of Kupffer's vesicle in zebrafish. Development. 2013;140:1703-12 pubmed publisher..These findings uncover a new role for cftr in KV morphogenesis and function during zebrafish development. ..
- Thomas S, Cantagrel V, Mariani L, Serre V, Lee J, Elkhartoufi N, et al. Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. Eur J Hum Genet. 2015;23:621-7 pubmed publisher..the variant disrupts ARL13B function, as its expression did not rescue the mutant phenotype either in Arl13b(scorpion) zebrafish or in Arl13b(hennin) mouse embryonic fibroblasts, while the wild-type ARL13B did...
- Boyd P, Cunliffe V, Roy S, Wood J. Sonic hedgehog functions upstream of disrupted-in-schizophrenia 1 (disc1): implications for mental illness. Biol Open. 2015;4:1336-43 pubmed publisher..We therefore suggest that altered Shh signalling may be an important neurodevelopmental factor in the pathobiology of mental illness. ..
- Frisca F, Colquhoun D, Goldshmit Y, Ankö M, Pebay A, Kaslin J. Role of ectonucleotide pyrophosphatase/phosphodiesterase 2 in the midline axis formation of zebrafish. Sci Rep. 2016;6:37678 pubmed publisher..Overall, this study demonstrates an essential role of enpp2/LPA signalling during early embryogenesis. ..