Primary Identifier | IPR038896 | Type | Family |
Short Name | RNF170 |
description | RNF170 is an endoplasmic reticulum membrane ubiquitin ligase that contributes to the ubiquitination of activated inositol 1,4,5-trisphosphate (IP3) receptors []. When point mutated (arginine to cysteine at position 199), it causes autosomal dominant sensory ataxia (ADSA), a disease characterised by neurodegeneration in the posterior columns of the spinal cord []. |