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Keywords: CEP290
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David A. Parfitt, Amelia Lane, Conor Ramsden, Katarina Jovanovic, Peter J. Coffey, Alison J. Hardcastle, Michael E. Cheetham
Journal:
Biochemical Society Transactions
Biochem Soc Trans (2016) 44 (5): 1245–1251.
Published: 19 October 2016
... is CEP290 (centrosomal protein of 290 kDa; OMIM 611755), accounting for ∼15–25% of LCA cases [ 11 ]. Here, we will mainly focus on RP2 and CEP290 retinal ciliopathies. RP2 is a GTPase-activating protein for the essential cilia-related GTPase, Arl3 [ 12 , 13 ]. RP2 is a ubiquitously expressed protein...
