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FLASH GENE
Symbol AMELX contributors: mct/npt - updated : 18-01-2021
HGNC name amelogenin (amelogenesis imperfecta 1, X-linked)
HGNC id 461
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivetooth    
cells
SystemCellPubmedSpeciesStageRna symbol
Digestivemeloblast
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • charged C-terminus interacting directly with HAP, and contributing to the control of enamel crystal growth by the organic matrix
    • HOMOLOGY
    Homologene
    FAMILY
  • amelogenin family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • major proteins expressed by ameloblasts during development of the crown (enamel and dentin)(Swanson 2006)
  • amelogenin and amelogenin-like molecules regulate mesenchymal cell behavior (Swanson 2006)
  • involved with ENAM in subsequent steps controling enamel hardness an growth
  • regulating the formation of crystallites during
    • the secretory stage of tooth enamel development
  • 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 the most abundant enamel matrix protein, and multiple isoforms resulting from extensive but well-conserved alternative splicing and postsecretional processing have been identified
  • is the main component of the developing tooth enamel matrix and is essential for enamel thickness and structure
  • ZBTB17 is an essential transcriptional activator of AMELX, which is critical in odontogenesis and matrix mineralization in the developing tooth
  • TFIP11, AMBN, and AMELX play an important role in dental caries
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting wirth ENAM
  • may interact with AMBN to form a heteromolecular assembly
  • AMELX interacts with the transmembrane proteins CD63 and LAMP (lysosome-associated membrane protein) 1, which are involved in endocytosis (Zou 2007)
  • 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)
  • effect of AMELX overexpression in upregulating amelogenins, MMP20 and SATB1, suggests a role in protein regulation critical to ameloblast secretion and matrix processing, to form a mineralized enamel matrix
  • 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
  • ameloblasts responsible for enamel formation express MMP20, an enzyme that cleaves enamel matrix proteins, including amelogenin (AMELX) and ameloblastin (AMBN)
  • 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) AIH1
    Susceptibility
  • to dental erosion
  • to Molar-Incisor Hypomineralization
    • Variant & Polymorphism other
  • significant associations between enamel loss and AMELX, tuftelin 1 (TUFT1), and tuftelin-interacting protein 11 (TFIP11)
  • rs5979395 associated with Molar-Incisor Hypomineralization
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Amelx null (KO) mice have hypoplastic, disorganized enamel similar to that of human patients with mutations in the AMELX gene, and provide a model system for studies of the enamel defect amelogenesis imperfecta (Gibson 2009)