Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Protein RD3

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


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

Related Diseases:

Leber congenital amaurosis 12



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 external link

NCBI article

NCBI 343035 external link

OMIM.ORG article

Omim 180040 external link
Update: Aug. 14, 2020
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