Species Human Entrez 200894 | Human Mouse Ensembl ENSG00000169379 | |
Aliases ARL13B, ARL2L1, JBTS8, ADP ribosylation factor like GTPase 13B External IDs MGI: 1915396 HomoloGene: 18820 GeneCards: ARL13B | ||
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.
Contents
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 and plays a role in cilia formation and in maintenance of cilia.
Clinical significance
Mutations in the ARL13B gene are associated with the Joubert syndrome.
References
ARL13B Wikipedia(Text) CC BY-SA