MLPH

MLPH (Melanophilin) is a protein that in humans is encoded by the MLPH gene. It is involved in the transportation of melanosomes to the periphery of melanocytes, a process that is essential for visible pigmentation in humans and other mammals. Mutations in this gene can result in a type of albinism known as Griscelli syndrome.

Function

Melanophilin is a Rab27a effector. It works by linking Rab27a to myosin Va, facilitating the transport of melanosomes from the center of the melanocyte to its periphery. This process is crucial for the visible pigmentation in mammals. Without it, melanosomes cluster in the center of the melanocyte, resulting in a lack of pigmentation.

Clinical significance

Mutations in the MLPH gene can cause Griscelli syndrome type 3, a rare autosomal recessive disorder. This condition is characterized by hypopigmentation of the skin, hair, and eyes, as well as immunological and neurological abnormalities.

See also

• Griscelli syndrome
• Melanosome
• Rab27a
• Myosin Va

External links

• NCBI Gene
• Genetics Home Reference

MLPH Resources
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