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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
Corresponding disease
AIH1 amelogenesis imperfecta 1, hypoplastic/hypomaturation
Location Xp22.2      Physical location : 11.311.532 - 11.318.880
Synonym name
  • amelogenin (X chromosome, amelogenesis imperfecta 1)
  • leucine-rich amelogenin peptide
  • Synonym symbol(s) AMG, AMGX, ALGN, AMGL, LRAP
    DNA
    TYPE functioning gene
    STRUCTURE 7.35 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • ZBTB17 binds to an MRE (MIZ-1 binding element) of the AMELX proximal promoter region (bp, -170 to -25)
  • MAPPING cloned Y linked N status confirmed
    Map pter - DXS89 - STS - DXS237 - DXS278 - KAL1 KAL1 - DXS143 - DXS70 - DXS85 - AMELX - DXS1145 - DXS16 - DXS9 - DXS43 - DXS207 - cen
    Authors Lagerström (90), Schlessinger (93), Herrell (94)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 793 - 191 - 2017 28395292
    7 - 835 - 205 - 2017 28395292
    5 - 745 - 175 - 2017 28395292
    - - - - 59 - 2017 28395292
  • also called LRAP (leucine-rich amelogenin protein)
  • the first 33 and the last 26 residues of full-length amelogenin
  • proximity of the C-terminus, LRAP, with the HAP crystal
  • 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)