Protein RD3
The RD3 gene encodes a retinal protein. Mutations cause autosomal recessive Leber congenital amaurosis type 12.
Genetests:
Related Diseases:
References:
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Friedman JS et al. (2006) Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.
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Preising MN et al. (2012) Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
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Perrault I et al. (2013) Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
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Chang B et al. (1993) New mouse primary retinal degeneration (rd-3).
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Lavorgna G et al. (2003) Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.
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Kukekova AV et al. (2009) Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.
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Azadi S et al. (2010) RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells.
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Molday LL et al. (2013) RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12.
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Orphanet article
Orphanet ID 118246
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10. |
NCBI article
NCBI 343035
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11. |
OMIM.ORG article
Omim 180040
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Update: Aug. 14, 2020