CD230 Gene ID | 5621 |
CD230 Official Full Name | prion protein |
CD230 Alias | Prion protein, PRNP |
CD230 Cellular Expression | T; B; NK; Dendritic; Endothelial; Epithelial; Granulocyte; Macrophage; Stem cell |
CD230 Ligand/Receptor/Association | |
CD230 Function | Oxidative stress homeostasis,cell survival, and signal transduction |
CD230 Summary | The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] |
Information from NCBI or Wiki