ARL6 — ADP Ribosylation Factor Like GTPase 6

Illustration of the eye cross-section showing the retina at the back of the eye
Illustration of the eye cross-section showing the retina at the back of the eye

ARL6 (also known as BBS3) encodes a small GTPase of the ARL/ARF family that is involved in membrane trafficking and cilia function. Mutations cause Bardet-Biedl syndrome type 3. The protein regulates BBSome recruitment to the ciliary membrane and is essential for proper ciliary trafficking.

Gene description: ARL6 (also known as BBS3) encodes a small GTPase of the ARL/ARF family that is involved in membrane trafficking and cilia function. Mutations cause Bardet-Biedl syndrome type 3. The protein regulates BBSome recruitment to the ciliary membrane and is essential for proper ciliary trafficking.

Clinical significance: Mutations cause BBS3. ARL6 deficiency is characterized by lower penetrance of kidney anomalies compared to other BBS genes. A founder variant has been identified in La Réunion Island.

Inheritance: Autosomal Recessive