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RP1L1 encodes a member of the doublecortin family.
Rp1 and Rp1L1 play essential and synergistic roles in affecting photosensitivity and morphogenesis of rod photoreceptors. Our findings suggest that mutations in RP1L1 could underlie retinopathy or modify RP1 disease expression
findings indicate that a homozygous p.S1210P exchange in the RP1L1 gene can cause cone dystrophy
We describe in detail a case of bilateral chronic subfoveal serous retinal detachment in an atypical occult macular dystrophy patient carrying a novel heterozygous RP1L1 mutation (p.S1199P)
Occult macular dystrophy is a genetically heterogeneous disorder in a white family of European descent, screened for genetic mutations in the RP1L1 gene.
These findings indicate that the phenotype in some cases of occult macular dystrophy with an Arg45Trp mutation in the RP1L1 gene can be unilateral for a considerable period.
RP1L1 mutations are associated with retinal diseases, including retinitis pigmentosa and occult macular dystrophy.
The clinical phenotypes differed between the proband and her mother and were indistinguishable from other sporadic or RP1L1-unassociated OMD (show OMD ELISA Kits) patients, suggesting that mutation-dependent clinical features may not be present.
The abnormalities in the multifocal electroretinograms and optical coherence tomography observed in the occult macular dystrophy patients of different durations strongly support the contribution of RP1L1 mutation to the presence of this disease.
Amino acid substitution of p.Arg45Trp in retinitis pigmentosa 1-like 1 (RP1L1) was found in three occult macular dystrophy (OMD (show OMD ELISA Kits))families and p.Trp960Arg in a remaining OMD (show OMD ELISA Kits) family.
The RP1L1 gene encodes a large, highly polymorphic, retinal-specific protein. No RP1L1 disease-causing mutations were identified in any of the samples tested.
This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD).
retinitis pigmentosa 1-like 1 protein
, retinitis pigmentosa 1-like protein 1