RNF216

RNF216

RNF216 is a gene that, when mutated or combined with mutations in OTUD4, can cause a syndrome of ataxia, dementia, and HH, which links disordered ubiquitination to neurodegeneration and reproductive dysfunction. The translated protein of RNF216, named TRIAD3a, is responsible for the degradation of TLR4 and TLR9 and adaptor molecules like TIRAP, TRIF, RIP1, and TRAF3.From: Endocrinology in Clinical Practice [2014], Disturbed Transcription of TLRs’ Negative Regulators and Cytokines Secretion among TLR4- and 9-Activated PBMCs of Agammaglobulinemic Patients [2019]

The inherited basis of hypergonadotropic hypogonadism

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Published in Philip E. Harris, Pierre-Marc G. Bouloux, Endocrinology in Clinical Practice, 2014

Pierre-Marc G. Bouloux

Whole-exome sequencing in a patient with ataxia and HH, followed by target sequencing of candidate genes in similarly affected patients, has revealed that the syndrome of ataxia, dementia, and HH can be caused by inactivating mutations in RNF216, or by a combination of mutations in RNF216 and OTUD4, linking disordered ubiquitination to neurodegeneration and reproductive dysfunction.83

Disturbed Transcription of TLRs’ Negative Regulators and Cytokines Secretion among TLR4- and 9-Activated PBMCs of Agammaglobulinemic Patients

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Published in Immunological Investigations, 2019

Roozbeh Sanaei, Nima Rezaei, Asghar Aghamohammadi, Ali-Akbar Delbandi, Parsova Tavasolian, Nader Tajik

Remarkable high transcripts of RNF216 was observed in XLA PBMCs (p = 0.0002) in comparison with healthy PBMCs. Although no transcriptional differences were found after LPS and CpG-A treatment of healthy PBMCs (p = 0.22 and p > 0.99, respectively), meaningful transcriptional downregulations were noticed among XLA PBMCs (p = 0.039 and p = 0.007, respectively). Significantly higher transcripts were found in LPS- and CpG-treated PBMCs (p < 0.0001 and p = 0.0001) of XLA in comparison with the same in healthy PBMCs (Figure 4).

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The inherited basis of hypergonadotropic hypogonadism

Disturbed Transcription of TLRs’ Negative Regulators and Cytokines Secretion among TLR4- and 9-Activated PBMCs of Agammaglobulinemic Patients