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 |
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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) |