Missense mutations and small indels in the CDKN2A gene, whic...

created [InstanceEdit:9633891] Orlic-Milacic, Marija, 2019-01-02
dbId 9633892
displayName Missense mutations and small indels in the CDKN2A gene, whic...
literatureReference
modified [InstanceEdit:9645275] Orlic-Milacic, Marija, 2019-05-07
schemaClass Summation
text Missense mutations and small indels in the CDKN2A gene, which result in amino acid changes in p16INK4A that impair its ability to bind to CDK4, interfere with p16INK4A-mediated, oxidative stress-induced, cellular senescence (Chen 2000, Vurusaner et al. 2012).
Loss-of-function mutations in p16INK4A can also contribute to cancer by interfering with p16INK4A-mediated inhibition of NFKB signaling (Becker et al. 2005).
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