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RNF170 encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane.
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aberrant ubiquitination of substrates, or cellular adaptation to chronically reduced RNF170 levels likely accounts for the autosomal dominant sensory ataxia-associated Ca2 (zeige CA2 Proteine)+ signaling deficit
RNF170 plays an essential role in IP(3) receptor processing via the ubiquitin-proteasome pathway.
Together these results suggest that the mutation in RNF170 is causal for the sensory ataxia
This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene.
E3 ubiquitin-protein ligase RNF170
, putative LAG1-interacting protein
, RING finger protein 170