phosphoinositide-3-kinase regulatory subunit 1
آخر تحديث 16 أغسطس 2023
يتوافق مع الإرشادات التحريرية
- تنزيلتنزيل
- مشاركة
- Language
- نقاش
- نسخة صوتية
- أضف إلى المصادر المفضلة على جوجل
The PIK3R1 gene provides instructions for making a part (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K). The primary function of the subunit is to regulate the enzyme's activity. Several slightly different versions of this regulatory subunit are produced from the PIK3R1 gene; the most abundant of these is called p85 alpha (p85α).
Normal function
The PIK3R1 gene provides instructions for making a part (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K). The primary function of the subunit is to regulate the enzyme's activity. Several slightly different versions of this regulatory subunit are produced from the PIK3R1 gene; the most abundant of these is called p85 alpha (p85α).
PI3K is a kinase, which means that it adds a cluster of oxygen and phosphorus atoms (a phosphate group) to other proteins through a process called phosphorylation. PI3K phosphorylates certain signaling molecules, which triggers a series of additional reactions that transmit chemical signals within cells. PI3K signaling is important for many cell activities, including cell growth and division (proliferation), movement (migration) of cells, production of new proteins, transport of materials within cells, and cell survival.
Studies suggest that PI3K signaling may be involved in how cells regulate several hormones. One of these hormones is insulin, which helps control levels of blood glucose, also called blood sugar. PI3K signaling may also play a role in the maturation of fat cells (adipocytes).
Conditions referring to this gene or chromosome
Other names
p85
p85-ALPHA
P85A_HUMAN
phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha
phosphatidylinositol 3-kinase regulatory subunit alpha
phosphatidylinositol 3-kinase-associated p-85 alpha
phosphoinositide-3-kinase regulatory subunit
PI3-kinase subunit p85-alpha
PI3K regulatory subunit alpha
Related patient information and medicines
Patient information leaflet
Pompholyx
Pompholyx is a type of الأكزيما where there are itchy blisters on the hands and feet, followed by inflamed and dry skin. The condition is usually long-term, with symptoms that come and go at various times. The first step in managing pompholyx is to identify and avoid things that make it worse. Treatment includes creams and ointments to reduce.
Patient information leaflet
ضمور العضلات
ضمور العضلات هو inherited (genetic) disorder causing muscle weakness. There are different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. The different types also vary as to what age they begin. If muscular dystrophy is suspected, tests can help to make an accurate diagnosis. Other.
Patient information leaflet
اضطرابات تخزين الجليكوجين
اضطرابات تخزين الجليكوجين 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. Most are diagnosed in childhood. Symptoms include weakness,.
Patient information leaflet
إنزيمات القلب
إنزيمات القلب يكون substances released by the heart muscle when it is injured - for example, during a heart attack or a severe case of angina. A heart attack (myocardial infarction) can present in many ways, the most common of which is chest pain. Taking blood tests for heart enzymes can help medical professionals to diagnose a heart attack. What.
Patient information leaflet
Medical negligence
Has not acted fairly. Has given you a poor service and not put things right. There is a separate Health Service Ombudsman for England, Scotland, Wales and Northern Ireland. Governing bodies for health professionals Healthcare professionals are regulated by governing bodies, which have the power to prevent them from practising if they are unfit to.
Patient information leaflet
اختبارات وظائف الكبد
اختبارات وظائف الكبد are a set of اختبارات الدم commonly done to check on the health of your liver. Changes in liver function tests give a clue as to whether your liver is under strain, inflamed, infected or diseased, and how badly. The pattern of the liver function tests can give a clue to the cause and can allow early detection of unsuspected.
قراءة إضافية ومراجع
- phosphoinositide-3-kinase regulatory subunit 1; MedlinePlus, National Library of Medicine.
- Chudasama KK, Winnay J, Johansson S, Claudi T, Konig R, Haldorsen I, Johansson B, Woo JR, Aarskog D, Sagen JV, Kahn CR, Molven A, Njolstad PR. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. Am J Hum Genet. 2013 Jul 11;93(1):150-7. doi: 10.1016/j.ajhg.2013.05.023. Epub 2013 Jun 27.
- Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM. Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27.
- Jaiswal BS, Janakiraman V, Kljavin NM, Chaudhuri S, Stern HM, Wang W, Kan Z, Dbouk HA, Peters BA, Waring P, Dela Vega T, Kenski DM, Bowman KK, Lorenzo M, Li H, Wu J, Modrusan Z, Stinson J, Eby M, Yue P, Kaminker JS, de Sauvage FJ, Backer JM, Seshagiri S. Somatic mutations in p85alpha promote tumorigenesis through class IA PI3K activation. Cancer Cell. 2009 Dec 8;16(6):463-74. doi: 10.1016/j.ccr.2009.10.016.
- Mellor P, Furber LA, Nyarko JN, Anderson DH. Multiple roles for the p85alpha isoform in the regulation and function of PI3K signalling and receptor trafficking. Biochem J. 2012 Jan 1;441(1):23-37. doi: 10.1042/BJ20111164.
- Philp AJ, Campbell IG, Leet C, Vincan E, Rockman SP, Whitehead RH, Thomas RJ, Phillips WA. The phosphatidylinositol 3'-kinase p85alpha gene is an oncogene in human ovarian and colon tumors. Cancer Res. 2001 Oct 15;61(20):7426-9.
- Quayle SN, Lee JY, Cheung LW, Ding L, Wiedemeyer R, Dewan RW, Huang-Hobbs E, Zhuang L, Wilson RK, Ligon KL, Mills GB, Cantley LC, Chin L. Somatic mutations of PIK3R1 promote gliomagenesis. PLoS One. 2012;7(11):e49466. doi: 10.1371/journal.pone.0049466. Epub 2012 Nov 14.
- Schroeder C, Riess A, Bonin M, Bauer P, Riess O, Dobler-Neumann M, Wieser S, Moog U, Tzschach A. PIK3R1 mutations in SHORT syndrome. Clin Genet. 2014 Sep;86(3):292-4. doi: 10.1111/cge.12263. Epub 2013 Oct 17.
- Thauvin-Robinet C, Auclair M, Duplomb L, Caron-Debarle M, Avila M, St-Onge J, Le Merrer M, Le Luyer B, Heron D, Mathieu-Dramard M, Bitoun P, Petit JM, Odent S, Amiel J, Picot D, Carmignac V, Thevenon J, Callier P, Laville M, Reznik Y, Fagour C, Nunes ML, Capeau J, Lascols O, Huet F, Faivre L, Vigouroux C, Riviere JB. PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet. 2013 Jul 11;93(1):141-9. doi: 10.1016/j.ajhg.2013.05.019. Epub 2013 Jun 27.
- Urick ME, Rudd ML, Godwin AK, Sgroi D, Merino M, Bell DW. PIK3R1 (p85alpha) is somatically mutated at high frequency in primary endometrial cancer. Cancer Res. 2011 Jun 15;71(12):4061-7. doi: 10.1158/0008-5472.CAN-11-0549. Epub 2011 Apr 8.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
16 أغسطس 2023 | أحدث إصدار
1 أغسطس 2023 | 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.