Background information
The cytoskeletal protein smoothelin is highly conserved among vertebrates and is expressed exclusively by contractile smooth muscle cells where it localizes to the filament network. Smoothelin associates with actin stress fibers but does not interact with desmin. At least two isoforms of smoothelin are produced by alternative splicing. The short isoform lacks amino acids 1–544 at the amino-terminus of the long isoform. The short isoform is expressed in visceral muscle tissue, including intestine and stomach, but not in brain, while the long isoform is expressed in all vascularized organs. In the vascular system, smoothelin expression is limited to large veins and arteries capable of pulsatile contraction. As a marker for the highly differentiated contractile smooth muscle cell, smoothelin expression is useful for studying vascular malformation and injury. The gene encoding human smoothelin maps to chromosome 22q12.2.
