Myosin Heavy Chain 8, Skeletal Muscle, Perinatal (MYH8) ELISA Kit for Duck

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 predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]

MYH8: Muscle contraction. Defects in MYH8 are a cause of Carney complex variant (CACOV). Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history. Defects in MYH8 are a cause of distal arthrogryposis type (DA7). A hereditary distal arthrogryposis characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. Such hand and jaw contractures are caused by shortened flexor muscle-tendon units. Similar lower-limb contractures also produce foot deformity. The trismus-pseudocamptodactyly syndrome is a morbid autosomal dominant trait with variable expressivity but high penetrance. In these patients, trismus complicates dental care, feeding during infancy, and intubation for anesthesia, and the pseudocamptodactyly impairs manual dexterity, with consequent occupational and social disability. Many patients require surgical correction of contractures.

Protein type: Motility/polarity/chemotaxis; Motor

Chromosomal Location of Human Ortholog: 17p13.1

Cellular Component: sarcomere; cytoplasm; muscle myosin complex; cytosol

Molecular Function: microfilament motor activity; actin filament binding; calmodulin binding; structural constituent of muscle; ATPase activity; myosin light chain binding; ATP binding

Biological Process: skeletal muscle contraction; muscle contraction; metabolic process; muscle filament sliding

Disease: Carney Complex Variant; Arthrogryposis, Distal, Type 7