MYH3 : myosin heavy chain 3

Description

The MYH3 (myosin heavy chain 3) is a protein-coding gene located on chromosome 17.

The MYH3 gene provides instructions for making a protein called myosin-3. This protein belongs to a group of proteins called myosins, which are involved in movement and the transport of materials within and between cells. In addition, muscle fibers are primarily composed of thick filaments made of myosin and thin filaments of another protein called actin. Thick and thin filaments are involved in muscle tensing (contraction). Muscle fibers containing myosin-3 are found primarily in the fetus before birth, and they are important for early development of the muscles. Myosins function when they are part of a group (complex). Each myosin complex consists of two pairs of myosin light chains (produced from other genes), which regulate the complex, and one pair of myosin heavy chains such as that produced from the MYH3 gene. The heavy chains each have two parts: a head region and a tail region. The head region interacts with actin, which allows the thick and thin filaments to move relative to one another so that muscles can contract. The head region also includes a segment that attaches (binds) to ATP, which is a molecule that supplies energy for cells' activities, including muscle contraction. The long tail region of the myosin heavy chain interacts with other proteins, including the tail regions of other myosins, to form thick filaments.

Muscle contraction.

MYH3 is also known as CPSFS1A, CPSFS1B, CPSKF1A, CPSKF1B, DA2A, DA2B, DA2B3, DA8, HEMHC, MYHC-EMB, MYHSE1, SMHCE.

Associated Diseases

• Contractures, pterygia, and variable skeletal fusions syndrome 1B
• Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A
• Freeman-Sheldon syndrome
• Autosomal recessive multiple pterygium syndrome
• Arthrogryposis, distal, type 2A
• Distal arthrogryposis type 1
• Sheldon-Hall syndrome
• Arthrogryposis, distal, type 2B3
• Spondylocarpotarsal synostosis syndrome