AMELX Chromosome X
Amelogenin X-linked
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What This Gene Does
This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Secretory calcium-binding phosphoprotein family
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000125363
Associated Conditions (3)
Amelogenesis imperfecta type 1E
AMELX-related disorder
Amelogenesis imperfecta
Key Variants
RS2147573600
Likely pathogenic
Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
Health Risk
RS2518744193
Likely pathogenic
Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
Health Risk
RS387906489
Likely pathogenic
Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
Health Risk
RS104894733
Pathogenic
Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
Health Risk
RS104894734
Pathogenic
Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
Health Risk
RS104894736
Pathogenic
Amelogenesis imperfecta type 1E, AMELX-related disorder, Amelogenesis imperfecta type 1E
Health Risk
RS104894737
Pathogenic
Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
Health Risk
RS104894738
Pathogenic
Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
Health Risk
RS1603038146
Pathogenic
Amelogenesis imperfecta, Amelogenesis imperfecta
Health Risk
RS387906487
Pathogenic
Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
Health Risk
RS387906488
Pathogenic
Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
Health Risk
RS387906490
Pathogenic
Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2147573600 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E |
| RS2518744193 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E |
| RS387906489 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E |
| RS104894733 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E |
| RS104894734 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E |
| RS104894736 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1E, AMELX-related disorder, Amelogenesis imperfecta type 1E |
| RS104894737 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E |
| RS104894738 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E |
| RS1603038146 | Health Risk | Pathogenic | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS387906487 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E |
| RS387906488 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E |
| RS387906490 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E |
| RS387906491 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E |