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FLASH GENE
Symbol ENAM contributors: mct/shn - updated : 07-01-2021
HGNC name enamelin
HGNC id 3344
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 39 AA signal peptide
  • two conserved LEF1 responsive elements
  • HOMOLOGY
    interspecies ortholog to Enam, Mus musculus
    ortholog to ENAM, Pan troglodytes
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix protein of developing teeth
    basic FUNCTION
  • involved in the extension of enamel during the secretory stage of dental enamel formation (early stage of enamel development)
  • involved in the mineralization and structural organization of enamel
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text tooth development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • beta-catenin/LEF1 complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AIH2 , AI1C
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in late stage of clear cell renal cell carcinoma (ccRCC)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • ENU-induced dominant mouse AIH2 mutations, M100395, M100514 and M100521 caused AI-like phenotypes in the incisors and molars of the affected individual