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FLASH GENE
Symbol PERP contributors: shn - updated : 05-03-2019
HGNC name PERP, TP53 apoptosis effector
HGNC id 17637
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four putative transmembrane domains
  • two extracellular domains
  • three cytoplasmic domains
    • HOMOLOGY
    interspecies ortholog to Perp, Mus musculus
    ortholog to Perp, Rattus norvegicus
    ortholog to perp, Danio rerio
    Homologene
    FAMILY
  • tetraspan membrane protein
    • CATEGORY tumor suppressor
    SUBCELLULAR LOCALIZATION
    text localizes specifically to desmosomes (
    basic FUNCTION
  • tumor suppressor gene activity
  • playing a role in promoting the stable assembly of desmosomal adhesive complexes
  • a key effector in the p63 developmental program, playing an essential role in an adhesion subprogram central to epithelial integrity and homeostasis (
  • regulates enamel formation and necessary for the integrity of the ameloblast-stratum intermedium interface (
  • is a component of the desmosomes, multiprotein complexes involved in cell-to-cell adhesion
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text essential for epithelial integrity
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in the metastating mammary carcinoma and pancreas cell lines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Perp-/- mice die postnatally, with dramatic blistering in stratified epithelia symptomatic of compromised adhesion (
  • Perp-null mice display dramatic enamel defects due to the detachment of ameloblasts from the stratum intermedium (