MYO5A

MYO5A is a gene that provides instructions for making a protein called myosin Va. This protein is part of a family of proteins known as myosins that are involved in cell movement and transportation of materials within cells. Myosin Va is found in many types of cells throughout the body, where it transports various types of cellular cargo. This protein is particularly important in nerve cells (neurons) in the brain and in specialized cells that produce a pigment called melanin.

Function[edit | edit source]

The MYO5A gene provides instructions for making a protein called myosin Va. This protein is part of a family of proteins known as myosins. These proteins are involved in cell movement and transportation of materials within cells. Myosin Va is found in many types of cells throughout the body, where it transports various types of cellular cargo. This protein is particularly important in nerve cells (neurons) in the brain and in specialized cells that produce a pigment called melanin.

Clinical significance[edit | edit source]

Mutations in the MYO5A gene cause Griscelli syndrome type 1. This condition is characterized by skin and hair coloration abnormalities and neurological problems. The MYO5A gene mutations that cause Griscelli syndrome type 1 result in a myosin Va protein that is nonfunctional or absent. Without functional myosin Va, melanin cannot be transported properly within cells, leading to the skin and hair coloration abnormalities characteristic of Griscelli syndrome type 1. It is unclear how MYO5A gene mutations lead to the neurological problems associated with this condition.

References[edit | edit source]

MYO5A Resources
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