Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Lebersche kongenitale Amaurose 12
RD3

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 external link
10.

NCBI article

NCBI 343035 external link
11.

OMIM.ORG article

Omim 180040 external link
Update: 14. August 2020
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