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FLASH GENE
Symbol PRND contributors: - updated : 28-09-2007
HGNC name prion protein 2 (dublet)
HGNC id 15748
PROTEIN
PHYSICAL PROPERTIES globular
STRUCTURE
motifs/domains
  • two disulfide bonds, two sites for N glycosylation
  • N- and O-linked sugars
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Prnd
    intraspecies paralog to PRNP
    Homologene
    FAMILY prion protein family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    text attached to the cell surface via a glycosylphosphatidylinositol anchor
    basic FUNCTION
  • may be playing a major role in human male fertility
  • have an essential function in male spermatogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • coexists only with N-terminally truncated isoforms of PRNP on mature spermatozoa
  • interacts with RACK1 by means of its structured globular carboxyl-terminal region
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • no association with susceptibility to prion diseases
  • susceptibility to sporadic Creutzfeldt-Jakob disease
  • Variant & Polymorphism SNP
  • SNP T174M increasing the risk of sporadic Creutzfeldt-Jakob disease
  • SNP in the 3'UTR+28 increasing the risk of sporadic Creutzfeldt-Jakob disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS