Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Protein RD3

The RD3 gene encodes a retinal protein. Mutations cause autosomal recessive Leber congenital amaurosis type 12.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Leber congenital amaurosis 12
RD3

References:

1.

Chang B et. al. (1993) New mouse primary retinal degeneration (rd-3).

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2.

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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3.

Friedman JS et. al. (2006) Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

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4.

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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5.

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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6.

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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7.

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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8.

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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Update: Sept. 26, 2018