MYO5A : myosin VA
Description
The MYO5A (myosin VA) is a protein-coding gene located on chromosome 15.
The MYO5A gene provides instructions for making myosin Va, a protein involved in transporting molecules within cells. Myosin Va functions in melanocytes, where it transports melanosomes, giving skin, hair, and eyes their color. It also plays a crucial role in neurons, transporting proteins and other molecules and potentially participating in exocytosis.
MYO5A encodes a protein that acts as a motor protein, using actin filaments as tracks to transport cargo within cells. It moves in large steps along these tracks, transporting melanosomes, vesicles to the plasma membrane, and potentially playing a role in dendrite formation during neuronal development.
MYO5A is also known as GS1, MYH12, MYO5, MYR12.
Associated Diseases
- Griscelli syndrome, type 1
- Griscelli syndrome type 3
- Griscelli syndrome type 1
- Neuroectodermal melanolysosomal disease
- Griscelli syndrome
