alsin Rho guanine nucleotide exchange factor ALS2
Ultimo aggiornamento 17 Jun 2022
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
L ALS2 gene provides instructions for making a protein called alsin. Alsin is produced in a wide range of tissues, with highest amounts in the brain. This protein is particularly abundant in motor neurons, the specialized nerve cells in the brain and spinal cord that control the movement of muscles.
Normal function
L ALS2 gene provides instructions for making a protein called alsin. Alsin is produced in a wide range of tissues, with highest amounts in the brain. This protein is particularly abundant in motor neurons, the specialized nerve cells in the brain and spinal cord that control the movement of muscles.
Alsin turns on (activates) multiple proteins called GTPases that convert a molecule called GTP into another molecule called GDP. GTPases play important roles in cell division, the process by which cells mature to carry out specific functions (differentiation), and the self-destruction of cells (apoptosis). The GTPases play important roles in several cell processes. The GTPases that are activated by alsin are involved in the proper placement of the various proteins and fats that make up the cell membrane, the transport of molecules from the cell membrane to the interior of the cell (endocytosis), and the development of specialized structures called axons and dendrites that project from neurons and are essential for the transmission of nerve impulses.
Conditions referring to this gene or chromosome
Altri nomi
ALS2_HUMAN
ALS2CR6
ALSJ
amyotrophic lateral sclerosis 2 (juvenile)
IAHSP
KIAA1563
PLSJ
Related patient information and medicines
Patient information leaflet
Mieloma
In the case of myeloma, one plasma. This abnormal cell then multiplies to produce many identical abnormal plasma cells (a clone of cells). The cancerous plasma cells mainly collect in the bone marrow and continue to multiply without any control. In the vast majority of cases of myeloma, the abnormal plasma cells make large quantities of one.
Patient information leaflet
porpora di Henoch-Schönlein
The pain can be very bad in some people and usually changes in severity, or comes on in waves. Tummy pain tends to come on about a week after the rash has developed in most cases of Henoch-Schönlein purpura. Some people may also experience being sick (vomiting) e avere diarrhoea. How do you test for HSP. Henoch-Schönlein purpura (HSP) is.
Patient information leaflet
HIV e AIDS
In fact... Preventing HIV by having safer sex and avoiding the sharing of needles is key, but if you develop HIV infection, early diagnosis and treatment are life-saving. What is HIV. test HIV stands for human immunodeficiency virus This is a virus in the group of viruses called retroviruses. HIV destroys cells in the body, called CD4 T cells. CD4 T.
Patient information leaflet
Test di coagulazione del sangue
Test di coagulazione del sangue are used to diagnose and assess sanguinamento problems and to monitor people who take warfarin or other anticoagulant medicines. You may be advised to have blood clotting tests: If you have a suspected bleeding disorder. For example, if you bleed a lot after cuts, or if you bruise easily. If you have certain liver diseases that can.
Patient information leaflet
Attacco di cuore
Blood clots do not usually form in normal ar... However, a clot may form if there is some atheroma within the lining of the artery. Certain risk factors increase the risk of more atheroma forming. This can lead to ACS. See the separate leaflet called Cardiovascular disease (Atheroma). Briefly, risk factors that can be modified and may help to.
Patient information leaflet
Sindrome da anticorpi antifosfolipidi
Normally, the immune system makes proteins called anticorpi that are helpful and do jobs such as fighting infection. In APS, unhelpful antibodies are formed as well and these attack a normal substance called phospholipid (which is why the antibodies are called antiphospholipid). APS is called an autoimmune condition - when the body's normal.
Ulteriori letture e riferimenti
- alsin Rho guanine nucleotide exchange factor ALS2; MedlinePlus, National Library of Medicine.
- Devon RS, Helm JR, Rouleau GA, Leitner Y, Lerman-Sagie T, Lev D, Hayden MR. The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. Clin Genet. 2003 Sep;64(3):210-5. doi: 10.1034/j.1399-0004.2003.00138.x.
- Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet. 2002 Sep;71(3):518-27. doi: 10.1086/342359. Epub 2002 Jul 26.
- Eymard-Pierre E, Yamanaka K, Haeussler M, Kress W, Gauthier-Barichard F, Combes P, Cleveland DW, Boespflug-Tanguy O. Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis. Ann Neurol. 2006 Jun;59(6):976-80. doi: 10.1002/ana.20879.
- Ferraiuolo L, Kirby J, Grierson AJ, Sendtner M, Shaw PJ. Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis. Nat Rev Neurol. 2011 Nov;7(11):616-30. doi: 10.1038/nrneurol.2011.152.
- Kunst CB. Complex genetics of amyotrophic lateral sclerosis. Am J Hum Genet. 2004 Dec;75(6):933-47. doi: 10.1086/426001. Epub 2004 Oct 11. No abstract available.
- Panzeri C, De Palma C, Martinuzzi A, Daga A, De Polo G, Bresolin N, Miller CC, Tudor EL, Clementi E, Bassi MT. The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. Brain. 2006 Jul;129(Pt 7):1710-9. doi: 10.1093/brain/awl104. Epub 2006 May 2.
- Racis L, Tessa A, Pugliatti M, Storti E, Agnetti V, Santorelli FM. Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review. Eur J Paediatr Neurol. 2014 Mar;18(2):235-9. doi: 10.1016/j.ejpn.2013.09.009. Epub 2013 Oct 9.
- Sheerin UM, Schneider SA, Carr L, Deuschl G, Hopfner F, Stamelou M, Wood NW, Bhatia KP. ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology. 2014 Mar 25;82(12):1065-7. doi: 10.1212/WNL.0000000000000254. Epub 2014 Feb 21.
- Tudor EL, Perkinton MS, Schmidt A, Ackerley S, Brownlees J, Jacobsen NJ, Byers HL, Ward M, Hall A, Leigh PN, Shaw CE, McLoughlin DM, Miller CC. ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowth. J Biol Chem. 2005 Oct 14;280(41):34735-40. doi: 10.1074/jbc.M506216200. Epub 2005 Jul 26.
- Yamanaka K, Vande Velde C, Eymard-Pierre E, Bertini E, Boespflug-Tanguy O, Cleveland DW. Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease. Proc Natl Acad Sci U S A. 2003 Dec 23;100(26):16041-6. doi: 10.1073/pnas.2635267100. Epub 2003 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.