ARL6 Human

ARL6 is a small GTPase that plays a crucial role in cellular functions by cycling between an active GTP-bound state and an inactive GDP-bound state. This cycling is essential for its role in regulating intracellular traffic and other cellular processes . ARL6 is particularly known for its involvement in the regulation of ciliary membrane biogenesis and maintenance .

The ARL6 gene is located on chromosome 3 and encodes a protein that is approximately 186 amino acids long . Mutations in the ARL6 gene have been associated with Bardet-Biedl Syndrome 3 (BBS3) and Retinitis Pigmentosa 55, both of which are genetic disorders that affect multiple body systems .

ARL6 is involved in several critical cellular pathways, including:

• Organelle Biogenesis and Maintenance: ARL6 plays a role in the formation and maintenance of cellular organelles, particularly cilia .
• Cargo Trafficking: It is essential for the trafficking of cargo to the periciliary membrane, which is crucial for ciliary function .

Mutations in the ARL6 gene can lead to severe clinical manifestations, including vision loss, obesity, polydactyly, and kidney abnormalities, which are characteristic of Bardet-Biedl Syndrome . Understanding the function and regulation of ARL6 is therefore critical for developing therapeutic strategies for these conditions.

Research on ARL6 has significant implications for understanding the molecular mechanisms underlying ciliary function and related disorders. The human recombinant form of ARL6 is used in various research applications to study its function and interactions with other proteins. This research is vital for developing potential therapeutic interventions for diseases associated with ARL6 dysfunction.