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RD3 encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Zusätzlich bieten wir Ihnen RD3 Antikörper (12) und RD3 Proteine (3) und viele weitere Produktgruppen zu diesem Protein an.
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Re-expressing RD3 in metastatic site-derived aggressive cells reverted their metastatic potential both in vitro and in vivo. Conversely muting RD3 in neuroblastoma cells not only heightened invasion/migration but also dictated aggressive disease with metastasis.
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) associated with an extremely severe form of retinal dystrophy.
RD3 suppresses the basal catalytic activity of guanylyl cyclase activating proteins (GCAP) 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.
Study describes a mouse model of Leber's Congenital Amaurosis type 1 and 12 with autosomal recessive mutation in rd3 gene. The substitution mutation in the Rd3 gene is predicted to cause a stop codon after residue 106.
the main RetGC-binding interface on RD3 required for the negative regulation of the cyclase localizes to the Lys(87)-Leu(122) region.
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) 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