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

Stimulator der Inteferon Gene

Das TMEM173-Gen kodiert ein transmembranöses Protein welches in die Regulation der angeborenen Immunantwort eingebunden ist und die Interferon-Produktion aktiviert. Mutationen führen zur autosomal dominanten Erkrankung STING-assoziierte Vaskulopathie mit Beginn in der Kindheit.

Gentests:

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

Verknüpfte Erkrankungen:

STING-assoziierte Vaskulopathie mit Beginn in der Kindheit
TMEM173

Referenzen:

1.

Ishikawa H et al. (2008) STING is an endoplasmic reticulum adaptor that facilitates innate immune signalling.

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2.

Haag SM et al. (2018) Targeting STING with covalent small-molecule inhibitors.

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3.

Dou Z et al. (2017) Cytoplasmic chromatin triggers inflammation in senescence and cancer.

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4.

Harding SM et al. (2017) Mitotic progression following DNA damage enables pattern recognition within micronuclei.

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5.

Lau L et al. (2015) DNA tumor virus oncogenes antagonize the cGAS-STING DNA-sensing pathway.

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6.

Bridgeman A et al. (2015) Viruses transfer the antiviral second messenger cGAMP between cells.

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7.

Gentili M et al. (2015) Transmission of innate immune signaling by packaging of cGAMP in viral particles.

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8.

West AP et al. (2015) Mitochondrial DNA stress primes the antiviral innate immune response.

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9.

Liu S et al. (2015) Phosphorylation of innate immune adaptor proteins MAVS, STING, and TRIF induces IRF3 activation.

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10.

Jeremiah N et. al. (2014) Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.

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11.

Zhu Q et al. (2014) Cutting edge: STING mediates protection against colorectal tumorigenesis by governing the magnitude of intestinal inflammation.

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12.

Liu Y et. al. (2014) Activated STING in a vascular and pulmonary syndrome.

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13.

Zhang L et al. (2014) NLRC3, a member of the NLR family of proteins, is a negative regulator of innate immune signaling induced by the DNA sensor STING.

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14.

You F et al. (2013) ELF4 is critical for induction of type I interferon and the host antiviral response.

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15.

Ablasser A et al. (2013) Cell intrinsic immunity spreads to bystander cells via the intercellular transfer of cGAMP.

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16.

Sun L et al. (2013) Cyclic GMP-AMP synthase is a cytosolic DNA sensor that activates the type I interferon pathway.

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17.

Wu J et al. (2013) Cyclic GMP-AMP is an endogenous second messenger in innate immune signaling by cytosolic DNA.

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18.

Chen H et al. (2011) Activation of STAT6 by STING is critical for antiviral innate immunity.

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19.

Burdette DL et al. (2011) STING is a direct innate immune sensor of cyclic di-GMP.

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20.

Ishikawa H et al. (2009) STING regulates intracellular DNA-mediated, type I interferon-dependent innate immunity.

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21.

Sun W et al. (2009) ERIS, an endoplasmic reticulum IFN stimulator, activates innate immune signaling through dimerization.

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22.

Li Y et al. (2009) ISG56 is a negative-feedback regulator of virus-triggered signaling and cellular antiviral response.

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23.

Zhong B et al. (2009) The ubiquitin ligase RNF5 regulates antiviral responses by mediating degradation of the adaptor protein MITA.

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24.

Jin L et al. (2008) MPYS, a novel membrane tetraspanner, is associated with major histocompatibility complex class II and mediates transduction of apoptotic signals.

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25.
Update: 14. August 2020
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