AMBN Chromosome 4
Ameloblastin
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What This Gene Does
This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Secretory calcium-binding phosphoprotein family
Locus Type
gene with protein product
Location
4q13.3
Ensembl
ENSG00000178522
Associated Conditions (1)
Amelogenesis imperfecta type 1F
Key Variants
RS752057018
Conflicting classifications of pathogenicity
Amelogenesis imperfecta type 1F, Amelogenesis imperfecta type 1F
Health Risk
RS2545307219
Likely pathogenic
Amelogenesis imperfecta type 1F, Amelogenesis imperfecta type 1F
Health Risk
RS2545314412
Likely pathogenic
Health Risk
RS146238585
Pathogenic
Amelogenesis imperfecta type 1F, Amelogenesis imperfecta type 1F
Health Risk
RS2545315463
Pathogenic
Amelogenesis imperfecta type 1F, Amelogenesis imperfecta type 1F
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS752057018 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta type 1F, Amelogenesis imperfecta type 1F |
| RS2545307219 | Health Risk | Likely pathogenic | Amelogenesis imperfecta type 1F, Amelogenesis imperfecta type 1F |
| RS2545314412 | Health Risk | Likely pathogenic | — |
| RS146238585 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1F, Amelogenesis imperfecta type 1F |
| RS2545315463 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1F, Amelogenesis imperfecta type 1F |