Melanophilin

Melanophilin is a protein that in humans is encoded by the MLPH gene. It is involved in the transport of melanosome, a specialized organelle that produces melanin, the pigment responsible for the color of skin, hair, and eyes.

Function

Melanophilin is a crucial component of the melanosome transport machinery. It acts as a linker protein, connecting myosin Va, a motor protein, to the melanosome. This connection allows the myosin Va to transport the melanosome along actin filaments within the cell.

Clinical significance

Mutations in the MLPH gene can lead to a condition known as Griscelli syndrome type 3. This is a rare genetic disorder characterized by hypopigmentation of the skin and hair, leading to a silver-gray hair color. The condition does not typically affect health or lifespan, but it does affect the appearance of individuals with the disorder.

See also

• Melanosome
• Myosin Va
• Griscelli syndrome
• Actin

References

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