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FLASH GENE
Symbol AMBN contributors: mct/pgu - updated : 18-08-2021
HGNC name ameloblastin (enamel matrix protein)
HGNC id 452
Corresponding disease
AI1F amelogenesis imperfecta, type IF
Location 4q13.3      Physical location : 71.458.000 - 71.473.002
Synonym name ameloblastin
Synonym symbol(s) AI1F
DNA
TYPE functioning gene
STRUCTURE 15.10 kb     13 Exon(s)    1 Copie(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 1999 - 447 - 2017 28395292
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtoothenamel  
Nervousbrain    
Urinarykidney    
cells
SystemCellPubmedSpeciesStageRna symbol
Digestiveameloblast
Skeletonosteoblast Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • enamel sheath protein, 26 AA signal peptide
  • heparin binding domains, critical for AMBN binding to dental epithelial cells
  • isoforms Precursor
    HOMOLOGY
    interspecies homolog to murine Anbn
    Homologene
    FAMILY
  • ameloblastin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • secreted in the extracellular matrix
  • located at the Tomes processes of secretory ameloblasts and in the sheath space between rod-interrod enamel
  • basic FUNCTION
  • playing an important role in enamel matrix formation and mineralization
  • promotes cell binding through the heparin binding sites and plays an important role in preventing odontogenic tumor development by suppressing cell proliferation and maintaining differentiation phenotypethrough Msx2, p21 and p27
  • most abundant nonamelogenin enamel matrix protein, playing a role in ameloblast differentiation
  • functions as a promoting factor for osteogenic differentiation via a novel pathway through the interaction between CD63 and ITGB1
  • increases osteoclast number and differentiation as well as mineralized tissue resorption by regulating cell adhesion and actin cytoskeleton polymerization, initiating integrin-dependent extracellular matrix signaling cascades and enhancing osteoclastogenesis
  • plays a crucial role in the regulation of cranial bone growth and suture closure via MSX2 suppression and proliferation inhibition
  • AMBN facilitates likely rapid long bone growth and an important growth spurt during the skeletogenesis of adolescent tooth-bearing vertebrates
  • is critical for the initiation of enamel ribbon formation, and its absence results in pathological mineralization within the enamel organ epithelia
  • TFIP11, AMBN, and AMELX play an important role in dental caries
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS ossification
    text
  • bone mineralization
  • odontogenesis of dentine-containing tooth
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • bipolar calcium-binding protein (Vymetal 2008)
  • phosphorylation modulates ameloblastin self-assembly and Ca 2+ binding
  • protein
  • may interact with AMELX to form a heteromolecular assembly
  • bound to CD63 and promoted CD63 binding to integrin beta1
  • AMTN interacts with itself and with ODAM, but not with amelogenin (AMELX), ameloblastin (AMBN), or enamelin (ENAM)
  • ameloblasts responsible for enamel formation express MMP20, an enzyme that cleaves enamel matrix proteins, including amelogenin (AMELX) and ameloblastin (AMBN)
  • binding properties of AMBN to Ca2+ may explain the role of AMBN in biomineralization and more generally in Ca2+ homeostasis processes
  • 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) AI1F
    Susceptibility
  • to dental caries
  • to Molar-Incisor Hypomineralization
  • Variant & Polymorphism other
  • rs7439186 in AMBN is involved in gene-by-fluoride interactions, in dental caries
  • rs34367704 associated with Molar-Incisor Hypomineralization
  • Candidate gene
  • candidate gene for dentinogenesis imperfecta and/or autosomal dominant amylogenesis imperfecta (AIH2)
  • defects in patients with ameloblastomas
  • gene alterations may be relevant tot he pathogenesis of calcifying epithelial odontogenic tumor
  • Marker
    Therapy target
    ANIMAL & CELL MODELS