PRNP

Also known as ASCR, AltPrP, CD230, CJD, GSS, KURU, PRIP, PrP

protein-coding gene in the species Homo sapiens

Gene data

PRNP

Name: prion protein (Kanno blood group)
Type: protein-coding
Position: 4,685,730–4,701,590 (+)
Aliases: ASCR, AltPrP, CD230, CJD, GSS, KURU, PRIP, PrP, PrP27-30, PrP33-35C
Ensembl: ENSG00000171867
RefSeq RNA: NM_000311.5, NM_001080121.3, NM_001080122.3, NM_001080123.3, NM_001271561.3
RefSeq protein: NP_000302.1, NP_001073590.1, NP_001073591.1, NP_001073592.1, NP_001258490.1

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].