| Gene Symbol | MYH2 |
| Entrez Gene ID | 4620 |
| Full Name | myosin heavy chain 2 |
| Synonyms | IBM3,MYH2A,MYHSA2,MYHas8,MYPOP,MyHC-2A,MyHC-IIa |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]. |
| Disorder MIM: | |
| Disorder Html: | Proximal myopathy and ophthalmoplegia, 605637 (3) |
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