peripherin 2
آخر تحديث 8 مايو 2023
يتوافق مع الإرشادات التحريرية
- تنزيلتنزيل
- مشاركة
- Language
- نقاش
- نسخة صوتية
- أضف إلى المصادر المفضلة على جوجل
ال PRPH2 gene (also known as RDS) provides instructions for making a protein called peripherin 2. This protein plays an important role in normal vision. Peripherin 2 is found in the retina, the light-sensitive tissue that lines the back of the eye. This protein is essential for the normal function of specialized cells called photoreceptors that detect light and colour. Within these cells, peripherin 2 is involved in the formation and stability of structures that contain light-sensing pigments.
Normal function
ال PRPH2 gene (also known as RDS) provides instructions for making a protein called peripherin 2. This protein plays an important role in normal vision. Peripherin 2 is found in the retina, the light-sensitive tissue that lines the back of the eye. This protein is essential for the normal function of specialized cells called photoreceptors that detect light and colour. Within these cells, peripherin 2 is involved in the formation and stability of structures that contain light-sensing pigments.
Conditions referring to this gene or chromosome
Other names
CACD2
peripherin 2 (retinal degeneration, slow)
peripherin 2, homolog of mouse
peripherin, photoreceptor type
PRPH2_HUMAN
RDS
retinal degeneration slow protein
retinal degeneration, slow
Tetraspanin-22
TSPAN22
Related patient information and medicines

Patient information leaflet
الحمى الغدية
Glandular fever (also known as infectious mononucleosis) is a viral infection that most often affects teenagers and young adults. Although it can make some people feel quite ill, full recovery is usual. What is glandular fever. الحمى الغدية is a viral infection, mostly caused by the Epstein-Barr virus. The virus can be passed from person to.

Patient information leaflet
هل يمكنني تناول مكملات الحديد وسيدوكسيل معًا؟
Taking iron supplements at the same time as Sedoxil (mexazolam) may reduce how much of the دواء your body absorbs. Using oth... Our مدقق تفاعلات الأدوية helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Simply search for your medicines to see potential interactions and.

Patient information leaflet
التهاب الحلق
Sore throat is very common and is usually caused by an infection in the throat. A sore throat usually lasts about a week, often worsening over the first two to three days before gradually improving. In around one in ten cases, it can last longer than a week. Sore throat symptoms The most common symptom is soreness in the throat. In addition, you.

Patient information leaflet
السكري من النوع 2
Type 2 diabetes can occur at any age, including during childhood, but it occurs mainly in people aged over 40. The first-line treatment is diet, weight control and physical activity. Other treatments include reducing blood pressure if it is high, lowering high cholesterol levels, and also other me... This is called insulin resistance. You can.

Patient information leaflet
استئصال اللوزتين
Tonsillectomy is an operation most often done in childhood; however, it can be done in adults as well. It is a common procedure. See the separate leaflet What do tonsils do. There are other separate leaflets which may be relevant, called Tonsillitis and Sore throat. Benefits of tonsillectomy Tonsils are usually removed because they are causing.

Patient information leaflet
التهاب اللوزتين
Recurrent tonsillitis Guidelines suggest removing the tonsils may be an option (tonsillectomy) if there have been: Seven or more episodes of tonsilli... And The bouts of tonsillitis affect normal functioning. For example, they are severe enough to require time off work school. Read our article on how to manage tonsillitis in children. Or An.
قراءة إضافية ومراجع
- peripherin 2; MedlinePlus, National Library of Medicine.
- Boon CJ, den Hollander AI, Hoyng CB, Cremers FP, Klevering BJ, Keunen JE. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog Retin Eye Res. 2008 Mar;27(2):213-35. doi: 10.1016/j.preteyeres.2008.01.002. Epub 2008 Jan 26.
- Chung M, Lotery AJ. Genetics update of macular diseases. Ophthalmol Clin North Am. 2002 Dec;15(4):459-65. doi: 10.1016/s0896-1549(02)00045-7.
- Felbor U, Schilling H, Weber BH. Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Hum Mutat. 1997;10(4):301-9. doi: 10.1002/(SICI)1098-1004(1997)10:43.0.CO;2-J.
- Francis PJ, Schultz DW, Gregory AM, Schain MB, Barra R, Majewski J, Ott J, Acott T, Weleber RG, Klein ML. Genetic and phenotypic heterogeneity in pattern dystrophy. Br J Ophthalmol. 2005 Sep;89(9):1115-9. doi: 10.1136/bjo.2004.062695.
- Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene. Ophthalmology. 2005 Sep;112(9):1592-8. doi: 10.1016/j.ophtha.2005.04.004.
- Sohocki MM, Daiger SP, Bowne SJ, Rodriquez JA, Northrup H, Heckenlively JR, Birch DG, Mintz-Hittner H, Ruiz RS, Lewis RA, Saperstein DA, Sullivan LS. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat. 2001;17(1):42-51. doi: 10.1002/1098-1004(2001)17:13.0.CO;2-K.
- Wang Q, Chen Q, Zhao K, Wang L, Wang L, Traboulsi EI. Update on the molecular genetics of retinitis pigmentosa. Ophthalmic Genet. 2001 Sep;22(3):133-54. doi: 10.1076/opge.22.3.133.2224.
- Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993 Mar;3(3):213-8. doi: 10.1038/ng0393-213.
- Yang Z, Li Y, Jiang L, Karan G, Moshfeghi D, O'Connor S, Li X, Yu Z, Lewis H, Zack D, Jacobson S, Zhang K. A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. Ophthalmic Genet. 2004 Jun;25(2):133-45. doi: 10.1080/13816810490514388.
- Yang Z, Lin W, Moshfeghi DM, Thirumalaichary S, Li X, Jiang L, Zhang H, Zhang S, Kaiser PK, Traboulsi EI, Zhang K. A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy. Am J Ophthalmol. 2003 Feb;135(2):213-8. doi: 10.1016/s0002-9394(02)01815-9.
- Zhang K, Garibaldi DC, Li Y, Green WR, Zack DJ. Butterfly-shaped pattern dystrophy: a genetic, clinical, and histopathological report. Arch Ophthalmol. 2002 Apr;120(4):485-90. doi: 10.1001/archopht.120.4.485.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
8 مايو 2023 | أحدث إصدار
1 Oct 2008 | 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.