Aliases for MYH8 Gene
External Ids for MYH8 Gene
Previous GeneCards Identifiers for MYH8 Gene
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]
GeneCards Summary for MYH8 Gene
MYH8 (Myosin, Heavy Chain 8, Skeletal Muscle, Perinatal) is a Protein Coding gene. Diseases associated with MYH8 include carney complex variant and trismus-pseudocamptodactyly syndrome. Among its related pathways are RhoGDI Pathway and ERK Signaling. GO annotations related to this gene include actin binding and structural constituent of muscle. An important paralog of this gene is MYH4.
UniProtKB/Swiss-Prot for MYH8 Gene
Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name), almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II. Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by intracellular Ca2+ concentrations.