MYH2 encodes myosin heavy chain IIa, a fast-twitch skeletal muscle myosin. Mutations cause myosin storage myopathy and rare forms of congenital myopathies with ophthalmoplegia.
| Property | Value |
|---|---|
| Gene Symbol | MYH2 |
| Gene Name | Myosin Heavy Chain 2 |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 4620 |
| OMIM | 160740 |
| UniProt | Q9Y2H5 |
MYH2 encodes myosin heavy chain IIa, a fast-twitch skeletal muscle myosin. Mutations cause myosin storage myopathy and rare forms of congenital myopathies with ophthalmoplegia.
The MYH2 gene is associated with the following neurodegenerative and related diseases:
MYH2 expression and its relevance to brain function is under active investigation.