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FLASH GENE
Symbol ENAM contributors: mct/shn - updated : 07-01-2021
HGNC name enamelin
HGNC id 3344
Corresponding disease
AI1C amelogenesis imperfecta type 1C
AIH2 amelogenesis imperfecta 2, hypoplastic local
Location 4q13.3      Physical location : 71.494.460 - 71.512.536
Synonym name
  • amelogenesis imperfecta 2, hypocalcification (autosomal dominant)
  • Synonym symbol(s) ADAI, AI1C, AIH2
    DNA
    TYPE functioning gene
    STRUCTURE 19.35 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D4S392 - D4S2969 - ENAM - D4S1543 - D4S2931 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 5674 - 1142 - 2019 31478359
    2 - 4943 - 924 - 2019 31478359
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemprostate  moderately
    Urinarykidney   moderately
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveameloblast
    Digestiveodontoblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye
    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
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    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
  • ENAM and AMELX are vital proteins in enamel formation
  • ENAM with AMELX is intimately involved in mineral induction at the beginning of enamel formation
  • is essential for ameloblast integrity and enamel formation
  • is an acellular material formed by the intricate process of amelogenesis
  • ENAM plays the greatest functional role at the enamel-dentine junction (EDJ)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text tooth development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • beta-catenin/LEF1 complex
  • possible cooperation between ENAMEL and AMELX in macromolecular coassembly and in controlling enamel mineral formation
  • AMTN interacts with itself and with ODAM, but not with amelogenin (AMELX), ameloblastin (AMBN), or enamelin (ENAM)
  • DLX3 promotes the expression of the enamel matrix protein (EMP) genes AMELX, ENAM, KLK4, and ODAM in amelogenesis, while mutant-DLX3 disrupts this regulatory function
  • AMELX alone is a weak promoter of nucleation, but addition of ENAM enhanced nucleation rates in a highly nonlinear, nonmonotonic manner reaching a sharp maximum at a ratio of 1:50 enamelin/amelogenin
  • cell & other
    REGULATION
    activated by hypoxia (increased expression of the structural enamel matrix genes AMELX, AMBN, and ENAM, and MMP20)
    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 to molar-incisor hypomineralization (MIH)
    Variant & Polymorphism other
  • ENAM rs3796704 marker was associated with MIH
  • 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