RP2 activator of ARL3 GTPase
Dernière mise à jour 1 juil. 2022
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
La RP2 gene provides instructions for making a protein that is essential for normal vision. The RP2 protein is active in cells throughout the body, including cells that make up the light-sensitive tissue at the back of the eye (the retina). However, the function of the RP2 protein is not well understood. Studies suggest that it may be involved in transporting proteins within the retina's specialized light receptor cells (photoreceptors). Its role in other types of cells is unknown.
Normal function
La RP2 gene provides instructions for making a protein that is essential for normal vision. The RP2 protein is active in cells throughout the body, including cells that make up the light-sensitive tissue at the back of the eye (the retina). However, the function of the RP2 protein is not well understood. Studies suggest that it may be involved in transporting proteins within the retina's specialized light receptor cells (photoreceptors). Its role in other types of cells is unknown.
Conditions referring to this gene or chromosome
Other names
DELXp11.3
KIAA0215
NM23-H10
NME10
protein XRP2
retinitis pigmentosa 2 (X-linked recessive)
TBCCD2
XRP2
XRP2_HUMAN
Related patient information and medicines
Patient information leaflet
Soins de fin de vie
Soins de fin de vie is a term used to cover the issues you need to think about and plan for, quand you are approaching death. It is a very wide area that covers many topics. End of life care - what should you expect. You can find out more about the NICE quality standard, and the specialist report, from the further reading list at the end of this.
Patient information leaflet
Maladie osseuse de Paget
Paget's disease of bone affects the structure of parts of one or more bones. In most cases it causes no symptoms and does not need treatment. Symptoms develop in some cases and pain in the affected part of bone... What is Paget's disease of bone. Paget's disease of bone was first described by Sir James Paget in 1877. (It is a different condition.
Patient information leaflet
Angine de poitrine
Angine de poitrine est a pain that comes from le heart. It is usually caused by narrowing of the heart's blood vessels - the (coronary) arteries. Usual treatment includes a statin medicine to lower your cholesterol level, low-dose aspirin to help prevent a heart attack, and a beta-blocker medicine to help protect the heart and to prevent angina pains. An.
Medicine leaflet
Nicorandil pour l'angine
These should settle as you g... Store the tablets in their original container - do not transfer from the blister pack into another container. About nicorandil Type of medicine An anti-anginal medicine (a potassium-channel activator) Used for To prevent l'angine de poitrine chest douleur Available as Tablets Angina is a pain that comes from the heart. It is usually.
Patient information leaflet
Échantillon d'urine en milieu de jet
A midstream specimen of urine (MSU or MSSU) est usually tested à look for infection, although in some cases, illness other than infection might be diagnosed based partly on what is seen in an MSU. What is the purpose of a midstream specimen of urine test. To confirm the diagnosis of a urine infection The usual symptoms of a urine infection are.
Patient information leaflet
Coarctation de l'aorte
La coarctation de l'aorte est un type de cardiopathie congénitale où il y a un rétrécissement d'une partie de l'aorte, la principale artère qui quitte le côté gauche du cœur. What is coarctation of the aorta. In coarctation of the aorta, there is a narrowing in part of the aorta, usually the upper part of the aorta. Blood cannot pass as easily through.
Lectures complémentaires et références
- RP2 activator of ARL3 GTPase; MedlinePlus, National Library of Medicine.
- Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 2002 Jun;70(6):1545-54. doi: 10.1086/340848. Epub 2002 Apr 30.
- Evans RJ, Hardcastle AJ, Cheetham ME. Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2. Exp Eye Res. 2006 Apr;82(4):543-4. doi: 10.1016/j.exer.2005.10.023. Epub 2005 Nov 28. No abstract available.
- Evans RJ, Schwarz N, Nagel-Wolfrum K, Wolfrum U, Hardcastle AJ, Cheetham ME. The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium. Hum Mol Genet. 2010 Apr 1;19(7):1358-67. doi: 10.1093/hmg/ddq012. Epub 2010 Jan 27.
- Grayson C, Bartolini F, Chapple JP, Willison KR, Bhamidipati A, Lewis SA, Luthert PJ, Hardcastle AJ, Cowan NJ, Cheetham ME. Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. Hum Mol Genet. 2002 Nov 15;11(24):3065-74. doi: 10.1093/hmg/11.24.3065.
- Jayasundera T, Branham KE, Othman M, Rhoades WR, Karoukis AJ, Khanna H, Swaroop A, Heckenlively JR. RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Arch Ophthalmol. 2010 Jul;128(7):915-23. doi: 10.1001/archophthalmol.2010.122.
- Mears AJ, Gieser L, Yan D, Chen C, Fahrner S, Hiriyanna S, Fujita R, Jacobson SG, Sieving PA, Swaroop A. Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 1999 Mar;64(3):897-900. doi: 10.1086/302298. No abstract available.
- Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet. 1998 Aug;19(4):327-32. doi: 10.1038/1214.
- Schwahn U, Paland N, Techritz S, Lenzner S, Berger W. Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein. Hum Mol Genet. 2001 May 15;10(11):1177-83. doi: 10.1093/hmg/10.11.1177.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.