ODAPH Chromosome 4
Odontogenesis associated phosphoprotein
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What This Gene Does
Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012]
Associated Conditions (2)
Amelogenesis imperfecta hypomaturation type 2A4
ODAPH-related disorder
Key Variants
RS146645381
Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A4, ODAPH-related disorder, Amelogenesis imperfecta hypomaturation type 2A4
Health Risk
RS1560558455
Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A4, ODAPH-related disorder, Amelogenesis imperfecta hypomaturation type 2A4
Health Risk
RS1560562630
Pathogenic
Amelogenesis imperfecta hypomaturation type 2A4, Amelogenesis imperfecta hypomaturation type 2A4
Health Risk
RS1560562738
Pathogenic
Amelogenesis imperfecta hypomaturation type 2A4, Amelogenesis imperfecta hypomaturation type 2A4
Health Risk
RS866941536
Pathogenic
Amelogenesis imperfecta hypomaturation type 2A4, Amelogenesis imperfecta hypomaturation type 2A4
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146645381 | Health Risk | Likely pathogenic | Amelogenesis imperfecta hypomaturation type 2A4, ODAPH-related disorder, Amelogenesis imperfecta hypomaturation type 2A4 |
| RS1560558455 | Health Risk | Likely pathogenic | Amelogenesis imperfecta hypomaturation type 2A4, ODAPH-related disorder, Amelogenesis imperfecta hypomaturation type 2A4 |
| RS1560562630 | Health Risk | Pathogenic | Amelogenesis imperfecta hypomaturation type 2A4, Amelogenesis imperfecta hypomaturation type 2A4 |
| RS1560562738 | Health Risk | Pathogenic | Amelogenesis imperfecta hypomaturation type 2A4, Amelogenesis imperfecta hypomaturation type 2A4 |
| RS866941536 | Health Risk | Pathogenic | Amelogenesis imperfecta hypomaturation type 2A4, Amelogenesis imperfecta hypomaturation type 2A4 |