What is Gene ACTA2?

The ACTA2 gene provides instructions for making a protein called smooth muscle alpha (α)-2 actin, which is part of the actin protein family. Actin proteins are important for cell movement and the tensing (contraction) of muscles. Smooth muscle α-2 actin is found in smooth muscle cells.

What causes multisystemic smooth muscle dysfunction?

Multisystem smooth muscle dysfunction syndrome (MSMDS) is a genetic disease caused mostly by mutation of the actin alpha 2 (ACTA2) gene p. R179H.

What chromosome is the human actin in the cardiac muscle found?

We show here that the gene coding for the cardiac muscle actin, which is closely related to the skeletal muscle actin (1.1% amino acid replacements), is located on mouse chromosome 17.

Which cells express alpha SMA?

Myofibroblasts. Myofibroblasts express α-smooth muscle actin (α-SMA) and have contractile and secretory properties that are central to controlling tissue architecture [6].

What does SMA stain for?

SMA (Alpha Smooth Muscle Actin) is recommended for the detection of specific antigens of interest in normal and neoplastic tissues, as an adjunct to conventional histopathology using non-immunologic histochemical stains.

How do smooth muscles contract?

Smooth muscle contraction is initiated when the Ca++ binds to intracellular calmodulin, which then activates an enzyme called myosin kinase that phosphorylates myosin heads so they can form the cross-bridges with actin and then pull on the thin filaments.

What does MYH7 gene do?

The MYH7 gene provides instructions for making a protein known as the beta (β)-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers. (Skeletal muscle are the muscles used for movement.)

What is alpha SMA a marker for?

α-Smooth muscle actin (α-SMA) is used as a marker for a subset of activated fibrogenic cells, myofibroblasts, which are regarded as important effector cells of tissue fibrogenesis.

Do fibroblasts express alpha SMA?

In healing tissues, fibroblasts acquire a contractile phenotype, characterized by formation of microfilament bundles, and by de novo expression of α-smooth muscle actin (α-SMA).