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2024-02-25T23:00:44Z

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'''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 ==
<references />

[[Category:Genes]]
[[Category:Proteins]]
[[Category:Medical genetics]]
[[Category:Human proteins]]
[[Category:Cell biology]]

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RAB27A - Revision history

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