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

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.

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

external link
2.

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

external link
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.

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
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.

external link
15.

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

external link
16.

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

external link
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.

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

Orphanet article

Orphanet ID 124021 external link
23.

NCBI article

NCBI 10133 external link
24.

OMIM.ORG article

Omim 602432 external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum