RPGR-interacting protein 1
The RPGRIP1 gene encodes a photoreceptor protein. Mutations cause autosomal recessive Leber congenital amaurosis type 6.
Genetests:
Related Diseases:
References:
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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
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NCBI article
NCBI 57096
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OMIM.ORG article
Omim 605446
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Wikipedia article
Wikipedia EN (RPGRIP1)
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Update: Aug. 14, 2020