ARL6

ARL6 is a gene that encodes the ADP-ribosylation factor-like protein 6 in humans. This protein is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL6 is involved in the regulation of cilia biogenesis through its role in the BBSome complex, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS), a genetically heterogeneous, autosomal recessive disorder characterized by obesity, retinitis pigmentosa, polydactyly, renal malformation and mental retardation.

Function

The ARL6 gene is a member of the ARF family of GTP-binding proteins. ARF genes encode small GTPases that increase the ADP-ribosyltransferase activity of cholera toxin and are critical for vesicle trafficking as activators of phospholipase D. The protein encoded by ARL6 is important for the development of cilia, which are small, hair-like structures present on many cellular surfaces.

Clinical significance

Mutations in the ARL6 gene are associated with Bardet-Biedl syndrome, a disorder characterized by obesity, retinitis pigmentosa, polydactyly, renal malformation and mental retardation. The ARL6 gene mutations are thought to disrupt the normal function of cilia, leading to the diverse symptoms of Bardet-Biedl syndrome.

See also

• ADP-ribosylation factor
• Bardet-Biedl syndrome
• Cilia

References

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