RAB27A

RAB27A is a gene that provides instructions for making a protein that is involved in the transport of vesicles, which are small sacs that transport proteins within cells. This protein is part of a group of related proteins known as the RAB family. The RAB27A protein is found in a variety of cells, including immune system cells and cells that produce melanin, the pigment that gives color to the skin, hair, and eyes.

Function

The RAB27A protein is involved in the transport of vesicles within cells. These vesicles carry proteins from the Golgi apparatus, where they are made, to the cell surface, where they are released. The RAB27A protein is also involved in the release of melanin from cells that produce this pigment.

Clinical significance

Mutations in the RAB27A gene cause a form of Griscelli syndrome known as type 2. This condition is characterized by a light skin and hair color, immune system problems, and neurological problems. The mutations that cause Griscelli syndrome type 2 change single protein building blocks (amino acids) in the RAB27A protein, which disrupts its ability to transport vesicles. This leads to a buildup of melanin in skin cells and a decrease in the amount of melanin that reaches the hair and skin, causing the characteristic light color. The immune system problems associated with Griscelli syndrome type 2 are caused by a buildup of immune system cells, which can lead to inflammation and damage to tissues and organs.

See also

• RAB27B
• Rab protein
• Griscelli syndrome

References

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