HCLS1 associated protein X-1
Última actualización 18 Aug 2020
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
El HAX1 gene provides instructions for making a protein called HS-1-associated protein X-1 (HAX-1). This protein is involved in the regulation of apoptosis, which is the process by which cells self-destruct when they are damaged or no longer needed. Apoptosis is a common process that occurs throughout life. The HAX-1 protein is also thought to be involved in cell movement (migration). The HAX-1 protein is found primarily in the mitochondria, the energy-producing centers within cells.
Normal function
El HAX1 gene provides instructions for making a protein called HS-1-associated protein X-1 (HAX-1). This protein is involved in the regulation of apoptosis, which is the process by which cells self-destruct when they are damaged or no longer needed. Apoptosis is a common process that occurs throughout life. The HAX-1 protein is also thought to be involved in cell movement (migration). The HAX-1 protein is found primarily in the mitochondria, the energy-producing centers within cells.
Different versions of the HAX-1 protein can be produced from the HAX1 gene by a mechanism called alternative splicing. This mechanism produces different version of the protein by cutting and rearranging the genetic instructions in different ways. The purpose of these multiple versions of the HAX-1 protein is unclear.
Conditions referring to this gene or chromosome
Otros nombres
HAX-1
HAX1_HUMAN
HCLS1-associated protein X-1
HCLSBP1
HS1 binding protein
HS1-associating protein X-1
HS1-binding protein 1
HS1BP1
HSP1BP-1
Related patient information and medicines
Patient information leaflet
Alimentación saludable
Alimentación saludable may help to prevent certain long-term (chronic) diseases such como heart disease, stroke and diabetes. It may also help to reduce your risk of developing some cancers and help you to maintain a healthy weight. This leaflet explains the principles of a healthy diet. Healthy eating may help to prevent certain serious diseases such as.
Patient information leaflet
Enfermedad renal diabética
Enfermedad renal diabética es un complication that occurs in some people with diabetes. Also, it aims to reduce the risk of developing cardiovascular diseases such as heart attack and stroke which are much more common than average in people with this disease. Diabetic kidney disease (diabetic nephropathy) is a complication that occurs in some people.
Patient information leaflet
Trastornos del almacenamiento de glucógeno
Trastornos del almacenamiento de glucógeno are a group of inherited diseases. They result from a problem with one of the proteins (known as enzymes) involved in the conversion of glucose to glycogen, or the breakdown of glycogen back into glucose. They mostly tend to affect your liver and muscles. Newer treatment possibilities provide hope for an improved outlook.
Patient information leaflet
Pruebas genéticas
Pruebas genéticas is a type of medical test that identifies changes in chromosomes, genes or proteins. Genetic tests examine a person's DNA in a variety of ways to assess a person's genetic health. We all have 46 chromosomes in our cells. Genes are short sections of DNA and each chromosome contains hundreds to thousands of genes. Genes contain the.
Patient information leaflet
enfermedad de Crohn
enfermedad de Crohn es un condition that causes inflammation of the wall of the gut (gastrointestinal tract). What is Crohn's disease. Crohn's disease is a condition that causes inflammation of the wall of the gut (gastrointestinal tract). However, the most common site for the disease first to start is the last part of the small intestine (the ileum)..
Patient information leaflet
Artritis reumatoide
Rheumatoid arthritis causes inflammation, pain, and swelling of joints. Persistent inflammation over time can damage affected joints. Rheumatoid arthritis treatment Standards of care you should expect The National Institute for Health and Care Excellence (NICE) has published quality standards on the standard of care that should be offered to every.
Lecturas adicionales y referencias
- HCLS1 associated protein X-1; MedlinePlus, National Library of Medicine.
- Boztug K, Klein C. Novel genetic etiologies of severe congenital neutropenia. Curr Opin Immunol. 2009 Oct;21(5):472-80. doi: 10.1016/j.coi.2009.09.003. Epub 2009 Sep 24.
- Fadeel B, Grzybowska E. HAX-1: a multifunctional protein with emerging roles in human disease. Biochim Biophys Acta. 2009 Oct;1790(10):1139-48. doi: 10.1016/j.bbagen.2009.06.004. Epub 2009 Jun 12.
- Xia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC, Link DC. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol. 2009 Nov;147(4):535-42. doi: 10.1111/j.1365-2141.2009.07888.x. Epub 2009 Sep 22.
- Zeidler C, Germeshausen M, Klein C, Welte K. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol. 2009 Feb;144(4):459-67. doi: 10.1111/j.1365-2141.2008.07425.x. Epub 2008 Dec 10.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
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.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.