RP2 activator of ARL3 GTPase
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A 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
A 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
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Leitura adicional e referências
- 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.
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