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FLASH GENE
Symbol AMBN contributors: mct/pgu - updated : 11-12-2009
HGNC name ameloblastin (enamel matrix protein)
HGNC id 452
Corresponding disease
AIH2 amelogenesis imperfecta 2, hypoplastic local
Location 4q13.3      Physical location : 71.458.000 - 71.473.002
Synonym name ameloblastin
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 - -
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
    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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS ossification
    text
  • bone mineralization
  • odontogenesis of dentine-containing tooth
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
  • bipolar calcium-binding protein (Vymetal 2008)
  • protein
  • may interact with AMELX to form a heteromolecular assembly
  • bound to CD63 and promoted CD63 binding to integrin beta1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AIH2
    Susceptibility
    Variant & Polymorphism
    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