ARL13B

From Wikipedia, the free encyclopedia
Jump to: navigation, search
ADP-ribosylation factor-like 13B
Identifiers
Symbols ARL13B ; ARL2L1; JBTS8
External IDs OMIM608922 MGI1915396 HomoloGene18820 GeneCards: ARL13B Gene
Orthologs
Species Human Mouse
Entrez 200894 68146
Ensembl ENSG00000169379 ENSMUSG00000022911
UniProt Q3SXY8 Q640N2
RefSeq (mRNA) NM_001174150 NM_026577
RefSeq (protein) NP_001167621 NP_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[edit]

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[edit]

Mutations in the ARL13B gene are associated with the Joubert syndrome.[2]

References[edit]

  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. doi:10.1016/j.ajhg.2008.06.023. PMC 2495072. PMID 18674751. 
  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. doi:10.1038/nature12833. PMID 24336288.  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. doi:10.1038/nature12832. PMID 24336289.  edit

Further reading[edit]


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