Myosin Heavy Chain 2, Skeletal Muscle, Adult (MYH2) ELISA Kit for Sheep

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]

MYH2: Muscle contraction. Required for cytoskeleton organization. Defects in MYH2 are the cause of inclusion body myopathy type 3 (IBM3). Hereditary inclusion body myopathies constitute a group of neuromuscular disorders characterized by slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM3 is a variant of hereditary inclusion body myopathies and is characterized by autosomal dominant myopathy with joint contracture, ophthalmoplegia and rimmed vacuoles. Morphological analysis of muscle biopsies from patients indicate that the type 2A fibers frequently were abnormal, whereas other fiber types appeared normal.

Protein type: Motor; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 17p13.1

Cellular Component: Golgi apparatus; sarcomere; protein complex; myofibril; contractile ring; muscle myosin complex; intercellular junction; cytosol; A band

Molecular Function: calmodulin binding; microfilament motor activity; protein binding; actin binding; ATP binding

Biological Process: muscle contraction; plasma membrane repair; metabolic process; innate immune response; response to activity; muscle filament sliding

Disease: Inclusion Body Myopathy 3, Autosomal Dominant