receptor accessory protein 1
آخر تحديث 18 Aug 2020
يتوافق مع الإرشادات التحريرية
- تنزيلتنزيل
- مشاركة
- Language
- نقاش
- نسخة صوتية
- أضف إلى المصادر المفضلة على جوجل
The REEP1 gene provides instructions for making a protein called receptor expression-enhancing protein 1 (REEP1), which is found in nerve cells (neurons) in the brain and spinal cord. The REEP1 protein is located within cell compartments called mitochondria, which are the energy-producing centers in cells, and the endoplasmic reticulum, which helps with protein processing and transport.
Normal function
The REEP1 gene provides instructions for making a protein called receptor expression-enhancing protein 1 (REEP1), which is found in nerve cells (neurons) in the brain and spinal cord. The REEP1 protein is located within cell compartments called mitochondria, which are the energy-producing centers in cells, and the endoplasmic reticulum, which helps with protein processing and transport.
The REEP1 protein plays a role in forming the network of tubules that make up the structure of the endoplasmic reticulum, regulating its size and determining how many proteins it can process. As part of its role in the endoplasmic reticulum, the REEP1 protein enhances the activity of certain other proteins called G protein-coupled receptors. These receptor proteins are eventually embedded within the outer membrane of cells, where they relay chemical signals from outside the cell to the interior of the cell.
The function of the REEP1 protein in the mitochondria is unknown.
Conditions referring to this gene or chromosome
Other names
C2orf23
FLJ13110
receptor expression-enhancing protein 1
REEP1_HUMAN
Related patient information and medicines
Patient information leaflet
سرطان الحنجرة
What is the larynx. The larynx makes up part of the throat and is located at the top part of the windpipe (trachea). It is about 5 cm long and is sometimes call... Other treatments Cetuximab is a fairly new treatment for throat (laryngeal) cancer. It is a type of monoclonal antibody which means that it can recognise and bind to specific proteins.
Patient information leaflet
متلازمة الكلوية
Nephrotic syndrome is a condition where the 'filters' in the kidney become 'leaky' and large amounts of البروتين leak from the blood into the urine. If high blood pressure develops then treatmen... A medicine called an مثبط الإنزيم المحول للأنجيوتنسين (ACE) or an angiotensin-II receptor antagonist (AIIRA) - sometimes called an angiotensin.
Patient information leaflet
سرطان الثدي
Ducts. These are channels which take milk from the lobules to the nipple. Fatty tissue and supporting connecti... Grade 2 - is a middle grade. Grade 3 - the cancer cells tend to be fast-growing and more aggressive. Presence of receptors Some breast cancer cells have receptors, which allow certain types of hormones or proteins to attach to the.
Patient information leaflet
مرض الكلى السكري
Diabetic kidney disease is one of the causes of chronic kidney disease , a long-term condition where the kidneys do not work as well as they should. In diabetic kidney disease, the filters of the kidneys, the glomeruli, become damaged. Because of this the kidneys 'leak' abnormal amounts of protein from the blood into the urine. The main protein.
Patient information leaflet
هل يمكنني تناول كانديسارتان والكولاجين معًا؟
It is... Why this happens Candesartan is a blood pressure medication (an angiotensin II receptor blocker) that works on the hormonal system controlling blood vessels. Collagen is a protein supplement used for skin, joint, and bone health. These two substances are processed by the body through different pathways and do not interfere with how the.
Patient information leaflet
هل يمكنني تناول بيسوبرولول وتريمبو معًا؟
Bisoprolol and Trimbow (which contains formoterol) work in opposite ways on the airways. Why this happens بيسوبرولول هو a 'beta-blocker' and formoterol (in Trimbow) is a 'beta-agonist'. They compete for the same receptors in the... Disclaimer This information is for general educational purposes only and should not be relied upon as a substitute.
قراءة إضافية ومراجع
- receptor accessory protein 1; MedlinePlus, National Library of Medicine.
- Beetz C, Pieber TR, Hertel N, Schabhuttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet. 2012 Jul 13;91(1):139-45. doi: 10.1016/j.ajhg.2012.05.007. Epub 2012 Jun 14.
- Bjork S, Hurt CM, Ho VK, Angelotti T. REEPs are membrane shaping adapter proteins that modulate specific g protein-coupled receptor trafficking by affecting ER cargo capacity. PLoS One. 2013 Oct 2;8(10):e76366. doi: 10.1371/journal.pone.0076366. eCollection 2013.
- Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Sole G, Coupry I, Pilliod J, Martin-Negrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, Pinel JF, Ouvrard-Hernandez AM, Lyonnet S, Ollagnon-Roman E, Yaouanq J, Toutain A, Dussert C, Fontaine B, Leguern E, Lacombe D, Durr A, Rossignol R, Brice A, Stevanin G. REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat. 2011 Oct;32(10):1118-27. doi: 10.1002/humu.21542. Epub 2011 Sep 9.
- Hurt CM, Bjork S, Ho VK, Gilsbach R, Hein L, Angelotti T. REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues. Brain Res. 2014 Jan 30;1545:12-22. doi: 10.1016/j.brainres.2013.12.008. Epub 2013 Dec 16.
- Schlang KJ, Arning L, Epplen JT, Stemmler S. Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC Med Genet. 2008 Jul 21;9:71. doi: 10.1186/1471-2350-9-71.
- Zuchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006 Aug;79(2):365-9. doi: 10.1086/505361. Epub 2006 May 26.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
18 Aug 2020 | أحدث إصدار
1 Apr 2015 | 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.