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RNF170 is 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.
Gene Name: | ring finger protein 170 |
Synonyms: | RNF170, DKFZP564A022, Ring finger protein 170, SNAX1 |
Target Sequences: | NM_030954 NP_112216.3 |
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