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FLASH GENE
Symbol AMELX contributors: mct/npt - updated : 16-04-2010
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)
Synonym symbol(s) AMG, AMGX, ALGN, AMGL
DNA
TYPE functioning gene
STRUCTURE 7.35 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
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)
Physical map
KAL1 Xp22.32 Kallmann syndrome 1 sequence FAM9A Xp22.32 family with sequence similarity 9, member A LOC392426 X similar to Nucleolar phosphoprotein p130 (Nucleolar 130 kDa protein) (140 kDa nucleolar phosphoprotein) (Nopp140) (Nucleolar and coiled-body phosphoprotein 1) FLJ40182 Xp22.32 hypothetical protein FLJ40182 LOC392427 X similar to chromodomain protein, Y chromosome-like isoform a; CDY-like, autosomal; testis-specific chromodomain Y-like protein TBL1X Xp22.3 transducin (beta)-like 1X-linked GPR143 APXL Xp22.31 apical protein-like (Xenopus laevis) KIAA1280 Xp22.32 KIAA1280 protein CLCN4 Xp22.31 chloride channel 4 MID1 Xp22.3 midline 1 (Opitz/BBB syndrome) HCCS Xp22.3-p22.2 holocytochrome c synthase (cytochrome c heme-lyase) ARHGAP6 Xp22.31 Rho GTPase activating protein 6 AMELX Xp22.31 amelogenin (X chromosome, amelogenesis imperfecta 1) LOC139952 Xp22.31 similar to LIM domain kinase 2 (LIMK-2) MSL3L1 Xp22.3 male-specific lethal 3-like 1 (Drosophila) KIAA0316 Xp22.2 male-specific lethal 3-like 1 (Drosophila) PRPS2 Xp22.31 phosphoribosyl pyrophosphate synthetase 2 MRPL35P4 Xq22.31 phosphoribosyl pyrophosphate synthetase 2 TLR7 Xp22.3 toll-like receptor 7 TLR8 Xp22.3 toll-like receptor 8 TMSB4X Xq21.3-q22 thymosin, beta 4, X chromosome FAM9C Xp22.32 family with sequence similarity 9, member C LOC92552 Xp22.31 similar to homologue of MJD, high homology to a genomic sequence in Xp22 LOC286478 Xp22.31 hypothetical LOC286478 LOC389839 X similar to glutathione peroxidase 1 EGFL6 Xp22.3 EGF-like-domain, multiple 6 MGC17403 Xp22.31 hypothetical protein MGC17403 RAB9A Xp22.2 RAB9A, member RAS oncogene family SEDL Xp22.31 spondyloepiphyseal dysplasia, late OFD1 Xp22.2-p22.3 oral-facial-digital syndrome 1 GPM6B Xp22.2 glycoprotein M6B FLJ20514 Xp22.31 hypothetical protein FLJ20514 LOC286480 Xp22.31 similar to ubiquitin-conjugating enzyme UbcM2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 793 - 191 - Kim, Fincham (1991)
7 - 835 - 205 - Kim, Fincham (1991)
5 - 745 - 175 - Kim, Fincham (1991)
- - - - 59 - Shaw, Gibson 2009)
  • 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
    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
    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)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AIH1
    Susceptibility
    Variant & Polymorphism
    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)