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ARL13B

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Identifiers
SymbolsARL13B ; ARL2L1; JBTS8
External IDsOMIM608922 MGI1915396 HomoloGene18820 GeneCards: ARL13B Gene
Orthologs
SpeciesHumanMouse
Entrez20089468146
EnsemblENSG00000169379ENSMUSG00000022911
UniProtQ3SXY8Q640N2
RefSeq (mRNA)NM_001174150NM_026577
RefSeq (protein)NP_001167621NP_080853
Location (UCSC)Chr 3:
93.7 – 93.77 Mb
Chr 16:
62.79 – 62.85 Mb
PubMed search[1][2]

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

  1. ^ a b "Entrez Gene: ADP-ribosylation factor-like 13B". 
  2. ^ 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 (August 2008). "Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome". Am. J. Hum. Genet. 83 (2): 170–9. PMC 2495072. PMID 18674751. doi:10.1016/j.ajhg.2008.06.023. 
  3. ^ Delling, M.; Decaen, P. G.; Doerner, J. F.; Febvay, S.; Clapham, D. E. (2013). "Primary cilia are specialized calcium signalling organelles". Nature 504 (7479): 311–314. PMID 24336288. doi:10.1038/nature12833.  edit
  4. ^ Decaen, P. G.; Delling, M.; Vien, T. N.; Clapham, D. E. (2013). "Direct recording and molecular identification of the calcium channel of primary cilia". Nature 504 (7479): 315–318. PMID 24336289. doi:10.1038/nature12832.  edit

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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