PRNP

Species Homo sapiens
Alternate Name(s) CJD, PrP, ASCR, PRIP, PrPc, MGC26679, PrP27-30, PrP33-35C
Epilepsy-Associated Disorder(s) mesial temporal lobe epilepsy related to hippocampal sclerosis
Description prion protein (p27-30) (CJD, GSS syndrome, fatal familial insomnia)
Chromosome 20
Locus 20pter-p12
Mouse Homolog Prnp
Protein Alignment Homo sapiens:

Mus musculus:
Reference(s) Butefisch CM, Gambetti P, Cervenakova L, Park KY, Hallett M, Goldfarb LG. Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study. Neurology. 2000 Aug 22;55(4):517-22

Capellari S, Vital C, Parchi P, Petersen RB, Ferrer X, Jarnier D, Pegoraro E, Gambetti P, Julien J. Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family. Neurology. 1997 Jul;49(1):133-41.

Collinge J, Whittington MA, Sidle KC, Smith CJ, Palmer MS, Clarke AR, Jefferys JG. Prion protein is necessary for normal synaptic function. Nature. 1994 Jul 28;370(6487):295-7.

Walz R, Castro RM, Velasco TR, Alexandre V Jr, Lopes MH, Leite JP, Santos AC, Assirati JA Jr, Wichert-Ana L, Terra-Bustamante VC, Bianchin MM, Maciag PC, Ribeiro KB, Guarnieri R, Araujo D, Cabalero O, Moura R, Salim AC, Kindlmann K, Landemberger MC, Marques W Jr, Fernandes RM, Serafini LN, Machado HR, Carlotti CG Jr, Brentani RR, Sakamoto AC, Martins VR. Surgical outcome in mesial temporal sclerosis correlates with prion protein gene variant. Neurology. 2003 Nov 11;61(9):1204-10.

[Entrez Cross-Database Search] [Entrez Gene] [Genatlas] [Human Gene Mutation Database] [Pfam] [Swiss-Prot] [UniProt] [Biogrid] [GeneCards] [Allen Brain Atlas ]