RAB27

RAB27‏‎ is a member of the Ras superfamily of GTPases. It is a small protein that is involved in the regulation of intracellular trafficking of vesicles. RAB27‏‎ exists in two isoforms, RAB27A and RAB27B, which are encoded by two different genes, RAB27A and RAB27B.

Function

RAB27‏‎ proteins are involved in the regulation of exocytosis, a process by which cells release molecules. They play a crucial role in the transport of lysosome-related organelles and melanosomes to the cell periphery. In addition, RAB27‏‎ proteins are involved in the secretion of cytokines and chemokines from immune cells.

Clinical significance

Mutations in the RAB27A gene can lead to Griscelli syndrome, a rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes.

See also

• Ras superfamily
• GTPases
• Exocytosis
• Griscelli syndrome

References

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