ARL13B
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
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.[5][6]
External IDsOMIM: 608922; MGI: 1915396; HomoloGene: 18820; GeneCards: ARL13B; OMA:ARL13B - orthologs
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[7][8] and plays a role in cilia formation and in maintenance of cilia.[5]
Clinical significance
Mutations in the ARL13B gene are associated with the Joubert syndrome.[6]
