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FLASH GENE
Symbol ENAM contributors: mct/shn - updated : 07-01-2021
HGNC name enamelin
HGNC id 3344
ASSOCIATED DISORDERS
corresponding disease(s) AIH2 , AI1C
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --low  
in late stage of clear cell renal cell carcinoma (ccRCC)
Susceptibility to molar-incisor hypomineralization (MIH)
Variant & Polymorphism other
  • ENAM rs3796704 marker was associated with MIH
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • ENU-induced dominant mouse AIH2 mutations, M100395, M100514 and M100521 caused AI-like phenotypes in the incisors and molars of the affected individual