platelet activating factor acetylhydrolase 1b regulatory subunit 1
Ultimo aggiornamento 15 Nov 2024
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
The PAFAH1B1 gene (also known as LIS1) provides instructions for making a protein that is one part (subunit) of a complex called platelet-activating factor acetylhydrolase 1B (PAFAH1B). This complex regulates the amount of a molecule called platelet activating factor (PAF) in the brain. PAF is thought to be involved in directing the movement of nerve cells, a process known as neuronal migration. Proper neuronal migration is essential for normal brain development and function.
Normal function
The PAFAH1B1 gene (also known as LIS1) provides instructions for making a protein that is one part (subunit) of a complex called platelet-activating factor acetylhydrolase 1B (PAFAH1B). This complex regulates the amount of a molecule called platelet activating factor (PAF) in the brain. PAF is thought to be involved in directing the movement of nerve cells, a process known as neuronal migration. Proper neuronal migration is essential for normal brain development and function.
The PAFAH1B1 protein is also involved in the organisation of the cell's structural framework (the cytoskeleton). This protein interacts with microtubules and with their associated proteins. Microtubules are the rigid, hollow fibers that make up the cytoskeleton; they play an important role in cell division and cell movement. Interactions between the PAFAH1B1 protein and the microtubules and their associated proteins are also essential for proper neuronal migration.
Conditions referring to this gene or chromosome
Altri nomi
LIS1
LIS2
MDCR
NudF
PAFAH
platelet-activating factor acetylhydrolase, isoform 1b, alpha subunit
Related patient information and medicines
Patient information leaflet
Test di coagulazione del sangue
Test di coagulazione del sangue are used to diagnose e assess bleeding 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
Anticoagulanti
How do anticoagulanti work. Our blood has a complex system of chemicals in it, which, when activated, cause blood clots to form. Wi... These activated platelets and the damaged tissue release chemicals which react with other chemicals and proteins in the blood, called clotting factors. There are 13 known clotting factors which are called by their.
Patient information leaflet
Trombofilia
The body has a natural clotting process in the blood, which is altered in thrombophilia. Thrombophilia refers to a group of conditions where the blood clots more easily than normal. These blood clots can cause problems such as deep vein thrombosis (DVT) or pulmonary embolism. See the separate leaflets called Deep vein thrombosis and Pulmonary.
Patient information leaflet
Il sistema immunitario
This leaflet gives a brief overview of the sistema immunitario and how it works. A person with a weak immune system might have difficulty fighting off infections. In autoimmune diseases the body is unable to tell what is its own and what is foreign, so it attacks itself. Autoimmune diseases can attack any part of the body - eg, type 1 diabetes.
Patient information leaflet
Emocromo completo e film del sangue
Thrombocytosis is ... What are the normal values for a full blood count test. The FBC test provides a number of results that provide information about red and white blood cells and platelets. The normal values for each of these three main blood cells are: Haemoglobin : the normal adult range in the UK is: 130-170 g/L for men. 115-150 g/L for.
Patient information leaflet
Leucemie infantili
Leukaemia is a cancer of the cells which develop into blood cells. There are different types of leukaemia. Most children with leukaemia will have acute lymphoblastic leukaemia. Some will have acute myeloid leukaemia. The outlook (prognosis) for children with leukaemia is usually very good and most children are cured. This leaflet gives a general.
Ulteriori letture e riferimenti
- platelet activating factor acetylhydrolase 1b regulatory subunit 1; MedlinePlus, National Library of Medicine.
- Brock S, Dobyns WB, Jansen A. PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia. 2009 Mar 3 [updated 2021 Mar 25]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK5189/
- Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003 Apr;72(4):918-30. doi: 10.1086/374320. Epub 2003 Mar 5.
- Friocourt G, Marcorelles P, Saugier-Veber P, Quille ML, Marret S, Laquerriere A. Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly. Acta Neuropathol. 2011 Feb;121(2):149-70. doi: 10.1007/s00401-010-0768-9. Epub 2010 Nov 3.
- Fry AE, Cushion TD, Pilz DT. The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):198-210. doi: 10.1002/ajmg.c.31402. Epub 2014 May 23.
- Gonzalez-Moron D, Vishnopolska S, Consalvo D, Medina N, Marti M, Cordoba M, Vazquez-Dusefante C, Claverie S, Rodriguez-Quiroga SA, Vega P, Silva W, Kochen S, Kauffman MA. Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. PLoS One. 2017 Sep 27;12(9):e0185103. doi: 10.1371/journal.pone.0185103. eCollection 2017.
- Liu JS. Molecular genetics of neuronal migration disorders. Curr Neurol Neurosci Rep. 2011 Apr;11(2):171-8. doi: 10.1007/s11910-010-0176-5.
- Saillour Y, Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A, Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D, Roubertie A, Pitelet G, Moutard ML, Pinard JM, Cances C, Kaminska A, Chelly J, Beldjord C, Bahi-Buisson N. LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. Arch Neurol. 2009 Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149.
- Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P. Neuronal migration disorders: clinical, neuroradiologic and genetics aspects. Acta Paediatr. 2009 Mar;98(3):421-33. doi: 10.1111/j.1651-2227.2008.01160.x. Epub 2008 Dec 16.
- Wynshaw-Boris A. Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development. Clin Genet. 2007 Oct;72(4):296-304. doi: 10.1111/j.1399-0004.2007.00888.x.
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.