ARL13B

ARL13B is a protein that in humans is encoded by the ARL13B gene. It is a member of the ADP-ribosylation factor-like (ARL) family of proteins, which are a subgroup of the larger ARF family. ARL13B is involved in cilia formation and function, and mutations in this gene have been associated with Joubert syndrome, a rare genetic disorder.

Function

ARL13B is a ciliary protein that plays a crucial role in cilia function. Cilia are small, hair-like structures present on the surface of all mammalian cells. They are involved in many physiological processes, including sensory perception, cell movement, and signal transduction. ARL13B is specifically involved in the regulation of ciliary length and structure, and it is required for the proper movement of proteins to the cilia.

Clinical significance

Mutations in the ARL13B gene have been associated with Joubert syndrome, a rare genetic disorder characterized by brain abnormalities, eye abnormalities, kidney disease, and polydactyly. Joubert syndrome is a ciliopathy, a class of diseases caused by dysfunction of cilia. The symptoms of Joubert syndrome are thought to be caused by the disruption of cilia-dependent signaling pathways.

Research

Research on ARL13B has provided insights into the function of cilia and the pathogenesis of ciliopathies. Studies have shown that ARL13B is required for the proper localization of other ciliary proteins, and that it interacts with several other proteins to regulate ciliary structure and function. In addition, research on ARL13B has contributed to our understanding of the molecular mechanisms underlying Joubert syndrome and other ciliopathies.

See also

• ADP-ribosylation factor
• Cilia
• Joubert syndrome
• Ciliopathy