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

RPGR-interagierendes Protein 1

Das RPGRIP1-Gen kodiert ein Protein des Photorezeptors. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 6.


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
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Lebersche kongenitale Amaurose 06



Dryja TP et al. (2001) Null RPGRIP1 alleles in patients with Leber congenital amaurosis.

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Won J et al. (2009) RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis.

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Mellersh CS et al. (2006) Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis.

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Roepman R et al. (2005) Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.

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Lu X et al. (2005) Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization.

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Lu X et al. (2005) Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis.

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Shu X et al. (2005) RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.

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Hameed A et al. (2003) Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.

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Castagnet P et al. (2003) RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons.

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Mavlyutov TA et al. (2002) Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.

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Hong DH et al. (2001) Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium.

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Roepman R et al. (2000) The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.

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Boylan JP et al. (2000) Identification of a novel protein interacting with RPGR.

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Gerber S et al. (2001) Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

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Khan AO et al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

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Orphanet article

Orphanet ID 118388 external link

NCBI article

NCBI 57096 external link

OMIM.ORG article

Omim 605446 external link
Update: 14. August 2020
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