NCIt synonyms : Ring Finger Protein 216 wt Allele; CAHH; ZIN; UBCE7IP1; TRIAD3; U7I1;
NCIt definition : Human RNF216 wild-type allele is located in the vicinity of 7p22.1 and is approximately
162 kb in length. This allele, which encodes E3 ubiquitin-protein ligase RNF216 protein,
plays a role in both protein ubiquitination and catabolism. Mutation of the protein
is associated with cerebellar ataxia and hypogonadotropic hypogonadism.;
NCIt note : There is a report of a chromosomal aberration involving the FBXL18 gene and the RNF216
gene, which is associated with breast cancer. (COSMIC);