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RD3 encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Additionally we are shipping RD3 Antibodies (3) and RD3 Kits (2) and many more products for this protein.
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This study reports the results of an international study aimed at delineating the clinical and molecular spectrum of RD3 mutations in retinal dystrophies.
Mutations in RD3 are a very rare cause of Leber's congenital amaurosis (LCA (show CLTA Proteins)) associated with an extremely severe form of retinal dystrophy (show MERTK Proteins).
RD3 suppresses the basal catalytic activity of guanylyl cyclase activating proteins (GCAP (show ALPPL2 Proteins)) in a noncompetitive manner.
Identification and sequence analysis of C1orf36.
the retinopathy-associated RD3 protein is part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing.
Direct association between RD3 and GCAP1 is important for GC1 targeting.
Studies indicate that RD3 plays an essential role in the exit of guanylate cyclase from the endoplasmic reticulum and its trafficking to photoreceptor outer segments.
Changes in gene expression associated with photoreceptor degeneration in the rd3 mouse model of Leber congenital amaurosis (LCA (show CLTA Proteins)) type 12, are characterized.
photoreceptor degeneration in the rd3 mouse, rcd2 dog, and LCA12 patients is caused by impaired RD3-mediated guanylate cyclase expression and trafficking
Rd3 is preferentially expressed in the retina and exhibits increasing expression through early postnatal development.
This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants.
, retinal degeneration protein 3