Myo7A — Myosin Viia 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 | MYO7A |
| Full Name | Myosin VIIa |
| Chromosome | 11q13.5 |
| NCBI Gene ID | 4647 |
| OMIM | 120650 |
| Ensembl ID | ENSG00000135624 |
| UniProt ID | P12883 |
| Associated Diseases | Usher Syndrome 1B, Deafness |
Myosin VIIa is a protein encoded by the MYO7A 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.
MYO7A encodes an unconventional myosin motor protein that moves towards the plus end of actin filaments. Myosin VIIa is involved in intracellular transport, particularly in cells with extensive actin-based motility such as retinal photoreceptors and inner ear hair cells.
In neurons, Myosin VIIa is expressed in photoreceptor cells and participates in transport of opsin-containing vesicles. It is also expressed in some central neurons.
Expressed in retina, inner ear, and various epithelial tissues. In the brain, expressed in photoreceptor cells and some neuronal populations.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| Usher Syndrome 1B | Missense, truncating | AR | Combined deafness and retinitis pigmentosa |
| Deafness | — | AR | Impaired hair cell function |
Myo7A — Myosin Viia 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 Myo7A — Myosin Viia 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.