The gene is 2100 base pairs long, about one percent as long as the dystrophin gene. Emerin is normally found in the heart muscles and skeletal muscle. Multiple different mutations of this gene cause the absence of emerin and thus the disease. This disease is called Emery-Dreifuss muscular dystrophy. It is X-linked.
Women are carriers and their sons can get the disease.
There is another form of Emery-Dreifuss muscular dystrophy, very similar, which does not result from a mutation of the STA gene. This affects men and women both. There are no true carriers. Thus there are at least 2 different genes that cause Emery-Dreifuss, only one of which is related to emerin. The disease is recessive, so that only one normal gene is needed.