Ir al contenido principal

actin alpha 1, skeletal muscle

El ACTA1 gene provides instructions for making a protein called skeletal alpha (α)-actin, which is part of the actin protein family. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle contraction). These proteins also help maintain the cytoskeleton, which is the structural framework that determines cell shape and organizes cell contents.

Normal function

El ACTA1 gene provides instructions for making a protein called skeletal alpha (α)-actin, which is part of the actin protein family. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle contraction). These proteins also help maintain the cytoskeleton, which is the structural framework that determines cell shape and organizes cell contents.

Skeletal α-actin plays an important role in skeletal muscles, which are muscles that the body uses for movement. Within skeletal muscle cells, skeletal α-actin is an essential component of structures called sarcomeres. Sarcomeres are composed of thin filaments made up of actin and thick filaments made up of another protein called myosin. Attachment (binding) and release of the overlapping thick and thin filaments allows them to move relative to each other so that the muscles can contract.

Conditions referring to this gene or chromosome

Otros nombres

ACTA

ACTS_HUMAN

alpha skeletal muscle actin

ASMA

Related patient information and medicines

Bronquiectasias

Patient information leaflet

Bronquiectasias

Bronchiectasis is a problem with the lungs, where you cough up lots of phlegm, (sputum): far more than usual. It is usually caused by something that has already affected the lungs, like a bad infection; but sometimes no cause is found. Or a problem with how the lungs clear aw... Some other type of rare condition like Kartagener's syndrome. There.

Enfisema

Patient information leaflet

Enfisema

Exposure to indoor and outdoor pollution. Breathing indoor pollutants (such as fumes from heating fuel), as well as outdoor pollutants (such as car exhaust) increases the risks of emphysema. Deficiencia de alfa-1-antitripsina. There is a rare genetic disorder called alpha-1-antitrypsin deficiency which leads to an inherited deficiency of a protein.

Pruebas de función hepática

Patient information leaflet

Pruebas de función hepática

Changes in la función hepática tests give a clue as to whether your liver is under strain, inflamed, infected or diseased, and how badly. The pattern of the liver function tests can give a clue to the cause and can allow early detection ... Alpha-fetoprotein (maternal levels help look at the health of the baby during pregnancy, and levels are also.

Enzimas cardíacas

Patient information leaflet

Enzimas cardíacas

Cardiac enzymes are substances released by the heart muscle when it is injured - for example, during a heart attack or a severe case of angina. A heart attack (myocardial infarction) ca... The cardiac enzyme levels that are tested are called cardiac troponins. Normal (skeletal) muscle also produces troponins pero troponins T and I are more specific.

Deficiencia de alfa-1 antitripsina

Patient information leaflet

Deficiencia de alfa-1 antitripsina

Deficiencia de alfa-1 antitripsina es an inherited genetic condition. A genetic condition is one that can be passed on from parents through genes. In alpha-1 antitrypsin deficiency the result of a gen... Treatment aims at slowing down the progression of the disease. What is alpha-1 antitrypsin. Alpha-1 antitrypsin (A1AT) is a protein made by cells in.

Distrofia muscular

Patient information leaflet

Distrofia muscular

Distrofia muscular is an inherited (genetic) disorder causing muscle weakness. There are different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. If muscular dystrophy is suspected, tests can help to make an accurate diagnosis. Muscular dystrophy (MD) is the name given to a group of disorders.

Lecturas adicionales y referencias

Historial del artículo

La información en esta página está escrita y revisada por pares por clínicos calificados.
  • 3 Mar 2023 | Última versión
  • 1 Apr 2012 | Publicado originalmente

Únete a la conversación

Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.

Aviso legal: The views expressed in the community do not represent medical advice. For any health concerns, consult your GP or healthcare provider.
verificador de elegibilidad para la gripe

Pregunta, comparte, conecta.

Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.

Suscríbete al boletín de Patient

Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.

Por favor, introduce una dirección de correo electrónico válida

Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.