Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

RPGR-interacting protein 1

The RPGRIP1 gene encodes a photoreceptor protein. Mutations cause autosomal recessive Leber congenital amaurosis type 6.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Leber congenital amaurosis 06
RPGRIP1

References:

1.

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

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2.

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

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3.

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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4.

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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5.

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

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6.

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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7.

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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8.

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

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9.

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

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10.

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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11.

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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12.

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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13.

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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14.

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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15.

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

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Update: Sept. 26, 2018