Details for Gene AMELX

GENE NAME AMELX
CHROMOSOME X
ENSEMBL ID None
ENTREZ ID ENSG00000125363
UNIPROT ACCESSION NUMBER Q99217
GO MOLECULAR FUNCTION ['structural constituent of tooth enamel', 'growth factor activity', 'hydroxyapatite binding', 'protein binding', 'identical protein binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-381426; R-HSA-392499; R-HSA-597592; R-HSA-8957275
2 combinations linked to AMELX OLI1641; OLI1734
2 variants linked to AMELX Copy Number Variant deletion on chromosome X of the whole gene in the gene AMELX; AMELX:c.208C>A, p.Pro70Thr
1 disease linked to AMELX Amelogenesis imperfecta

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