Myo5A — Myosin Va plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
| Gene Symbol | MYO5A |
| Full Name | Myosin Va |
| Chromosome | 15q21.2 |
| NCBI Gene ID | 4644 |
| OMIM | 160777 |
| Ensembl ID | ENSG00000128594 |
| UniProt ID | Q9Y4P9 |
| Associated Diseases | Griscelli Syndrome, Parkinson's Disease |
Myosin Va is a protein encoded by the MYO5A gene. This gene/protein plays important roles in various cellular processes. Additional research continues to elucidate its specific functions in the nervous system and its potential involvement in neurodegenerative diseases.
MYO5A encodes an unconventional myosin motor protein that moves towards the plus end of actin filaments. Myosin Va is a processive motor that transports various cargoes including melanosomes, vesicles, and organelles along actin filaments. It contains a globular tail domain that mediates cargo binding.
In neurons, Myosin Va transports synaptic vesicle precursors, ER components, and other organelles in dendrites and axons. It is essential for dendritic spine formation and synaptic function.
Expressed in many tissues including brain, melanocytes, and platelets. In neurons, enriched in dendrites and synaptic regions.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| Griscelli Syndrome | Truncating | AR | Impaired melanosome transport |
| Parkinson's Disease | — | Risk factor | Altered vesicular transport |
Myo5A — Myosin Va plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of Myo5A — Myosin Va has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.