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Optineurin

The OPTN gene encodes optineurin that plays a role in glaucoma pathogenesis. Mutations cause autsomal open angle glaucoma 1E.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Open angle glaucoma 1E
OPTN

References:

1.

Li X et al. (2008) A tumor necrosis factor-alpha-mediated pathway promoting autosomal dominant polycystic kidney disease.

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2.

Lazarou M et al. (2015) The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy.

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3.

Pottier C et al. (2015) Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.

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4.

Vaibhava V et al. (2012) Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17.

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5.

Deng HX et al. (2011) Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations.

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6.

Wild P et al. (2011) Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth.

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7.

Maruyama H et al. (2010) Mutations of optineurin in amyotrophic lateral sclerosis.

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8.

Chi ZL et al. (2010) Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice.

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9.

Morton S et al. (2008) Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma.

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10.

Park BC et al. (2007) Interaction between two glaucoma genes, optineurin and myocilin.

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11.

Tang S et al. (2003) The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene.

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12.

Vittitow J et al. (2002) Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure.

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13.

Hattula K et al. () FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis.

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14.

Schwamborn K et al. (2000) Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa B-independent pathway.

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15.

Moreland RJ et al. (2000) Identification of a transcription factor IIIA-interacting protein.

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16.

Faber PW et al. (1998) Huntingtin interacts with a family of WW domain proteins.

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17.

Li Y et al. (1998) Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains.

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18.

Chalasani ML et al. (2007) A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants.

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19.

Rezaie T et al. (2002) Adult-onset primary open-angle glaucoma caused by mutations in optineurin.

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20.

Sarfarazi M et al. (1998) Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region.

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21.

Funayama T et al. (2004) Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.

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22.

Orphanet article

Orphanet ID 124021 external link
23.

NCBI article

NCBI 10133 external link
24.

OMIM.ORG article

Omim 602432 external link
25.

Wikipedia article

Wikipedia EN (Optineurin) external link
Update: Aug. 14, 2020
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