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 | OLI1734; OLI1641 |
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 |