ARL13B: Difference between revisions
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== Function == |
== Function == |
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This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small [[GTPase]] that contains both [[N-terminus|N-terminal]] and [[C-terminus|C-terminal]] guanine nucleotide-binding motifs. This protein is localized in the [[cilia]] and plays a role in cilia formation and in maintenance of cilia.<ref name="entrez"/> |
This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small [[GTPase]] that contains both [[N-terminus|N-terminal]] and [[C-terminus|C-terminal]] guanine nucleotide-binding motifs. This protein is localized in the [[cilia]]<ref name="Primary cilia are specialized calcium signalling organelles, 2013">{{Cite pmid|24336288}}</ref> <ref name="Direct recording and molecular identification of the calcium channel of primary cilia, 2013">{{Cite pmid|24336289}}</ref> and plays a role in cilia formation and in maintenance of cilia.<ref name="entrez"/> |
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== Clinical significance == |
== Clinical significance == |
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Revision as of 22:05, 31 December 2013
Template:PBB 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]
References
- ^ a b "Entrez Gene: ADP-ribosylation factor-like 13B".
- ^ a b 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 (2008). "Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome". Am. J. Hum. Genet. 83 (2): 170–9. doi:10.1016/j.ajhg.2008.06.023. PMC 2495072. PMID 18674751.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Attention: This template ({{cite pmid}}) is deprecated. To cite the publication identified by PMID 24336288, please use {{cite journal}} with
|pmid=24336288instead. - ^ Attention: This template ({{cite pmid}}) is deprecated. To cite the publication identified by PMID 24336289, please use {{cite journal}} with
|pmid=24336289instead.
Further reading
- Hori Y, Kobayashi T, Kikko Y; et al. (2008). "Domain architecture of the atypical Arf-family GTPase Arl13b involved in cilia formation". Biochem. Biophys. Res. Commun. 373 (1): 119–24. doi:10.1016/j.bbrc.2008.06.001. PMID 18554500.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Cantagrel V, Silhavy JL, Bielas SL; et al. (2008). "Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome". Am. J. Hum. Genet. 83 (2): 170–9. doi:10.1016/j.ajhg.2008.06.023. PMC 2495072. PMID 18674751.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Cevik S, Hori Y, Kaplan OI; et al. (2010). "Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans". J. Cell Biol. 188 (6): 953–69. doi:10.1083/jcb.200908133. PMID 20231383.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Fan Y, Esmail MA, Ansley SJ; et al. (2004). "Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome". Nat. Genet. 36 (9): 989–93. doi:10.1038/ng1414. PMID 15314642.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link)
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