Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Optineurin

Das OPTN-Gen kodiert Optineurin, welches eine Bedeutung für die Glaukomentwicklung besitzt. Mutationen sind für das autosomal dominante Weitwinkelglaukom 1E verantwortlich.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Weitwinkelglaukom 1E
OPTN

Referenzen:

1.

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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2.

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

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3.

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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4.

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

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5.

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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6.

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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7.

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

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8.

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

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9.

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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10.

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

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11.

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

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12.

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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13.

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

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14.

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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15.

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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16.

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

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17.

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

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18.

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

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19.

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

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20.

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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21.

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

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22.

Orphanet article

Orphanet ID 124021 [^]
23.

NCBI article

NCBI 10133 [^]
24.

OMIM.ORG article

Omim 602432 [^]
Update: 9. Mai 2019