Protein RD3
Das RD3-Gen kodiert ein Retina-Protein. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 12.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Friedman JS et al. (2006) Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.
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2. |
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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3. |
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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4. |
Chang B et al. (1993) New mouse primary retinal degeneration (rd-3).
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5. |
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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6. |
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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7. |
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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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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9. |
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: 14. August 2020