Target intelligence / Profile preview

Myosin-Va (MYO5A)

Target
MYO5A
Molecular classification
Motor protein, Unconventional myosin, Cytoskeleton-associated protein, Actin-based motor protein
01

Overview

Myosin-Va (MYO5A) is an unconventional myosin, a motor protein that uses ATP hydrolysis to move along actin filaments and to transport intracellular cargo. It is particularly important in melanocytes for transferring melanosomes (pigment-containing organelles) to the cell periphery, and in neurons, where it traffics organelles and proteins and supports exocytosis. MYO5A interacts with Rab27A and melanophilin to form complexes critical for melanosome transport. It can also bind microtubules, acting as a bridge between actin and microtubule cytoskeletons, and may help cross-link and coordinate these systems[1][3][4][5]. Defects or loss-of-function mutations in MYO5A underlie Griscelli syndrome type 1, a rare autosomal recessive disorder characterized by pigment dilution and severe neurological symptoms. Although MYO5A plays important physiological roles, it has not been established as a direct therapeutic drug target, nor are there known drugs designed to modulate its activity[1][3][4].

Other names
dilute myosin heavy chain, non-muscleGS1MYH12MYO5MYO5A_HUMANmyosin VA (heavy chain 12, myoxin)myosin, heavy polypeptide kinasemyosin-12myosin-VamyoxinMYR12unconventional myosin-Va
02

Biological functions

Intracellular transportOrganelle and vesicle traffickingActin-microtubule cross-linkingExocytosisCell shape and movement
03

Disease associations

Griscelli syndrome type 1 (includes hypopigmentation and neurological defects)Neurodegenerative disease (suggested association)Disorders of pigmentationMotor neuron/neurological dysfunction
04

Biomarkers

Mutations in MYO5A for Griscelli syndrome type 1 diagnosis

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