phosphatidylinositol glycan anchor biosynthesis class T
آخر تحديث 24 Feb 2022
يتوافق مع الإرشادات التحريرية
- تنزيلتنزيل
- مشاركة
- Language
- نقاش
- نسخة صوتية
- أضف إلى المصادر المفضلة على جوجل
The PIGT gene provides instructions for making a protein called GPI transamidase component PIG-T (shortened to PIG-T protein). This protein is important for the attachment of certain proteins to the cell surface. Specifically, the PIG-T protein attaches (binds) a molecule called a glycosylphosphatidylinositol (GPI) anchor to various proteins inside the cell. After the GPI anchor and protein are bound, the anchor is attached to the outer surface of the cell membrane. Anchored proteins have a variety of roles, including sticking cells to one another, relaying signals into cells, and protecting cells from destruction.
Normal function
The PIGT gene provides instructions for making a protein called GPI transamidase component PIG-T (shortened to PIG-T protein). This protein is important for the attachment of certain proteins to the cell surface. Specifically, the PIG-T protein attaches (binds) a molecule called a glycosylphosphatidylinositol (GPI) anchor to various proteins inside the cell. After the GPI anchor and protein are bound, the anchor is attached to the outer surface of the cell membrane. Anchored proteins have a variety of roles, including sticking cells to one another, relaying signals into cells, and protecting cells from destruction.
Conditions referring to this gene or chromosome
Other names
CGI-06
MCAHS3
NDAP
neuronal development-associated protein
phosphatidylinositol glycan, class T
PNH2
Related patient information and medicines
Patient information leaflet
متلازمة كوشينغ
متلازمة كوشينغ is caused by too high a level of glucocorticoid in the body. This can be caused by taking steroid medication long-term (the common cause) or by the body making too much cortisol (the main glucocorticoid made by the body). Symptoms usually develop gradually and so the diagnosis (other than that caused by steroid medication) may.
Patient information leaflet
تضيق الصمام التاجي
تضيق الصمام التاجي means that when the mitral valve opens, it does not open fully. The opening is therefore narrower than normal (stenosed). The mitral valve هو a heart valve that lies between the left atrium and left ventricle. The valve has two flaps (cusps). The valve allows blood to flow into the left ventricle when the left atrium squeezes.
Patient information leaflet
الأدوية والعلاج للخرف
Medicines for dementia are always started by a doctor who specialises in treating dementia. There are four medicines available in the UK which can be prescribed for dementia. These are donepezil , rivastigmine , galantamine and memantine. They are available as tablets, liquids, tablets that dissolve in water, or patches. They come in various brand.
Patient information leaflet
الانصباب الجنبي
A pleural effusion is a collection of fluid next to the lung. There are various causes. The effusion may cause you to become breathless. The fluid can be drained if necessary. Treatment is mainly aimed at the underlying cause. What is a pleural effusion. A pleural effusion means that there is a build-up of fluid in the space between a lung and the.
Patient information leaflet
ابيضاض الدم النقوي الحاد
What is acute myeloid leukaemia. Acute myeloid leukaemia (AML) is a condition where the bone marrow makes large numbers of abnormal immature white blood cells which are derived from a myeloid stem cell. The abnormal immature cells are called blasts. There are various subtypes of AML, depending on exactly what cell type becomes cancerous and at.
Patient information leaflet
اضطراب الوسواس القهري
اضطراب الوسواس القهري (OCD) is a condition where you have recurring obsessions, compulsions, or both. The usual treatments are cognitive behavioural therapy (CBT), a selective serotonin reuptake inhibitor (SSRI) antidepressant medicine, or both. Treatment often works well to reduce the symptoms and distress of OCD greatly. What is OCD..
قراءة إضافية ومراجع
- phosphatidylinositol glycan anchor biosynthesis class T; MedlinePlus, National Library of Medicine.
- Brodsky RA. Paroxysmal nocturnal hemoglobinuria without GPI-anchor deficiency. J Clin Invest. 2019 Dec 2;129(12):5074-5076. doi: 10.1172/JCI131647.
- Hochsmann B, Murakami Y, Osato M, Knaus A, Kawamoto M, Inoue N, Hirata T, Murata S, Anliker M, Eggermann T, Jager M, Floettmann R, Hollein A, Murase S, Ueda Y, Nishimura JI, Kanakura Y, Kohara N, Schrezenmeier H, Krawitz PM, Kinoshita T. Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation. J Clin Invest. 2019 Dec 2;129(12):5123-5136. doi: 10.1172/JCI123501.
- Krawitz PM, Hochsmann B, Murakami Y, Teubner B, Kruger U, Klopocki E, Neitzel H, Hoellein A, Schneider C, Parkhomchuk D, Hecht J, Robinson PN, Mundlos S, Kinoshita T, Schrezenmeier H. A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood. 2013 Aug 15;122(7):1312-5. doi: 10.1182/blood-2013-01-481499. Epub 2013 Jun 3.
- Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SC, Blennow E, Bergmann M, Stodberg T, Makitie O, Anderlid BM, Bryceson YT, Nordenskjold M, Nordgren A. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet. 2013 Aug;50(8):521-8. doi: 10.1136/jmedgenet-2013-101654. Epub 2013 May 1.
- Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T, Saitsu H, Matsumoto N. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. Neurogenetics. 2014 Aug;15(3):193-200. doi: 10.1007/s10048-014-0408-y. Epub 2014 Jun 8.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
24 Feb 2022 | أحدث إصدار
1 Feb 2022 | نُشر في الأصل
انضم إلى المحادثة
شارك أفكارك أو تجاربك مع الآخرين في مجتمعات المرضى.
اسأل، شارك، تواصل.
تصفح المناقشات، اطرح الأسئلة، وشارك التجارب عبر مئات المواضيع الصحية.
اشترك في النشرة الإخبارية للمرضى
جرعتك الأسبوعية من النصائح الصحية الواضحة والموثوقة - مكتوبة لمساعدتك على الشعور بالاطلاع والثقة والتحكم.
من خلال الاشتراك، فإنك تقبل سياسة الخصوصية. يمكنك إلغاء الاشتراك في أي وقت. نحن لا نبيع بياناتك أبدًا.