HCLS1 associated protein X-1
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
L 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
L 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
Altri nomi
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
Alimentazione sana
Alimentazione sana may help to prevent certain long-term (chronic) diseases such as 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
Malattia renale diabetica
Malattia renale diabetica is a 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
Disordini di accumulo di glicogeno
Disordini di accumulo di glicogeno 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
Test genetici
Test genetici 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
morbo di Crohn
morbo di Crohn is a 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
Artrite 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.
Ulteriori letture e riferimenti
- 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.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.