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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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)