ARL13B
Description
The ARL13B (ADP ribosylation factor like GTPase 13B) is a protein-coding gene located on chromosome 3.
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. 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 the ARL13B gene are associated with the Joubert syndrome.
ARL13B is a ciliary protein essential for the structural integrity of the microtubule-based ciliary axoneme. It plays a role in maintaining the association between IFT subcomplexes A and B, key components of the intraflagellar transport machinery. While ARL13B binds GTP, its GTPase activity is unclear. ARL13B is crucial for patterning the neural tube and participates in cerebral cortex development. It regulates the formation of the radial glial scaffold, a critical step in cortex construction, through ciliary signaling. Additionally, it controls the migration and positioning of postmitotic interneurons within the developing cortex. ARL13B potentially regulates endocytic recycling traffic, although further investigation is needed to confirm this.
ARL13B is also known as ARL2L1, JBTS8.
