ARL13B explained
ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene.[1] [2]
Function
This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia[3] [4] and plays a role in cilia formation and in maintenance of cilia.[1]
Clinical significance
Mutations in the ARL13B gene are associated with the Joubert syndrome.[2]
Further reading
- Hori Y, Kobayashi T, Kikko Y . Domain architecture of the atypical Arf-family GTPase Arl13b involved in cilia formation. . Biochem. Biophys. Res. Commun. . 373 . 1 . 119–24 . 2008 . 18554500 . 10.1016/j.bbrc.2008.06.001 . etal.
- Cantagrel V, Silhavy JL, Bielas SL . Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. . Am. J. Hum. Genet. . 83 . 2 . 170–9 . 2008 . 18674751 . 10.1016/j.ajhg.2008.06.023 . 2495072. etal.
- Cevik S, Hori Y, Kaplan OI . Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans. . J. Cell Biol. . 188 . 6 . 953–69 . 2010 . 20231383 . 10.1083/jcb.200908133 . 2845074. etal.
- Fan Y, Esmail MA, Ansley SJ . Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. . Nat. Genet. . 36 . 9 . 989–93 . 2004 . 15314642 . 10.1038/ng1414 . etal. free .
Notes and References
- Web site: Entrez Gene: ADP-ribosylation factor-like 13B.
- Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, Valente EM, Woods CG, Gleeson JG . Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome . Am. J. Hum. Genet. . 83 . 2 . 170–9 . August 2008 . 18674751 . 2495072 . 10.1016/j.ajhg.2008.06.023 .
- Delling . M. . Decaen . P. G. . Doerner . J. F. . Febvay . S. . Clapham . D. E. . Primary cilia are specialized calcium signalling organelles . 10.1038/nature12833 . Nature . 504 . 7479 . 311–314 . 2013 . 24336288 . 4112737. 2013Natur.504..311D .
- Decaen . P. G. . Delling . M. . Vien . T. N. . Clapham . D. E. . Direct recording and molecular identification of the calcium channel of primary cilia . 10.1038/nature12832 . Nature . 504 . 7479 . 315–318 . 2013 . 24336289 . 4073646. 2013Natur.504..315D .
