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FLASH GENE
Symbol CDSN contributors: mct - updated : 26-08-2010
HGNC name corneodesmosin
HGNC id 1802
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal adhesive Gly/Ser-rich domain (GS domain) folded to form glycine loops described in cytokeratin loricrin
  • proline-rich domain
    • conjugated GlycoP
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to murine Cdsn
    intraspecies homolog to loricrin,keratin 1 and 10
    Homologene
    FAMILY
    CATEGORY adhesion , secretory , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,desmosome
    text
  • corneo desmosome
  • located in the upper most living layers and in related structures of the cornified layers
    • basic FUNCTION
  • playing an important role in corneocyte cohesion
  • mediating homophilic adhesive function, major event in the process of desquamation
  • involved in growth and maintenance of the scalp hair
  • not essential for skin-barrier formation in utero, but is vital throughout life to preserve this barrier by maintaining desmosome integrity (Leclerc 2009)
  • phosphorylated basic keratinocyte adhesion glycoprotein located in the extracellular part of the desmosomes and corneodesmosomes at the transition from the stratum granulosum (SG) to the stratum corneum (SC) and in the inner root sheath of the hair follicle (Oji 2010)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HTSS1 , PSS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    reduced degradation of all corneodesmosomal proteins in psoriatic lesions which probably reflects the persistence of corneodesmosomes (Simon 2008)
    Susceptibility psoriasis (PSORS1)
    Variant & Polymorphism other
  • allele 971T confering psoriasis susceptibility
  • rare allele (+1243)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Cdsn-deficient mouse skin showed detachment of the stratum corneum from the underlying granular layer and/or detachment within the upper granular layers due to the disrupted integrity of the corneodesmosomes (Matsumoto 2008)