Aliases for ARL13B Gene
External Ids for ARL13B Gene
Previous HGNC Symbols for ARL13B Gene
Previous GeneCards Identifiers for ARL13B Gene
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 and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
GeneCards Summary for ARL13B Gene
ARL13B (ADP Ribosylation Factor Like GTPase 13B) is a Protein Coding gene. Diseases associated with ARL13B include Joubert Syndrome 8 and Arl13b-Related Joubert Syndrome. Among its related pathways are Cargo trafficking to the periciliary membrane and Organelle biogenesis and maintenance. GO annotations related to this gene include GTP binding. An important paralog of this gene is ARFRP1.
UniProtKB/Swiss-Prot for ARL13B Gene
Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. May regulate endocytic recycling traffic; however, additional evidences are required to confirm these data.