ENAM Chromosome 4
Enamelin
Upload your DNA to see your personal genotypes for variants in ENAM.
What This Gene Does
Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Secretory calcium-binding phosphoprotein family
Locus Type
gene with protein product
Location
4q13.3
Ensembl
ENSG00000132464
Associated Conditions (6)
Amelogenesis imperfecta
ENAM-related disorder
Gastric cancer
Inborn genetic diseases
Amelogenesis imperfecta - hypoplastic autosomal dominant - local
Amelogenesis imperfecta type 1C
Key Variants
RS138729240
Conflicting classifications of pathogenicity
Amelogenesis imperfecta, Amelogenesis imperfecta
Health Risk
RS142747446
Conflicting classifications of pathogenicity
Amelogenesis imperfecta, ENAM-related disorder, Gastric cancer
Health Risk
RS144225109
Conflicting classifications of pathogenicity
Amelogenesis imperfecta, Amelogenesis imperfecta
Health Risk
RS148122591
Conflicting classifications of pathogenicity
Amelogenesis imperfecta, Amelogenesis imperfecta
Health Risk
RS148712673
Conflicting classifications of pathogenicity
Amelogenesis imperfecta, Amelogenesis imperfecta
Health Risk
RS373870116
Conflicting classifications of pathogenicity
Amelogenesis imperfecta, Inborn genetic diseases, Amelogenesis imperfecta
Health Risk
RS71599965
Conflicting classifications of pathogenicity
Amelogenesis imperfecta, Amelogenesis imperfecta
Health Risk
RS775159311
Conflicting classifications of pathogenicity
Amelogenesis imperfecta, Inborn genetic diseases, Amelogenesis imperfecta
Health Risk
RS1442845757
Likely pathogenic
ENAM-related disorder, ENAM-related disorder
Health Risk
RS1738621357
Likely pathogenic
Health Risk
RS2545343550
Likely pathogenic
Health Risk
RS121908109
Pathogenic
Amelogenesis imperfecta - hypoplastic autosomal dominant - local, Amelogenesis imperfecta - hypoplastic autosomal dominant - local
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138729240 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS142747446 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta, ENAM-related disorder, Gastric cancer |
| RS144225109 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS148122591 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS148712673 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS373870116 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta, Inborn genetic diseases, Amelogenesis imperfecta |
| RS71599965 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS775159311 | Health Risk | Conflicting classifications of pathogenicity | Amelogenesis imperfecta, Inborn genetic diseases, Amelogenesis imperfecta |
| RS1442845757 | Health Risk | Likely pathogenic | ENAM-related disorder, ENAM-related disorder |
| RS1738621357 | Health Risk | Likely pathogenic | — |
| RS2545343550 | Health Risk | Likely pathogenic | — |
| RS121908109 | Health Risk | Pathogenic | Amelogenesis imperfecta - hypoplastic autosomal dominant - local, Amelogenesis imperfecta - hypoplastic autosomal dominant - local |
| RS1553887511 | Health Risk | Pathogenic | Amelogenesis imperfecta - hypoplastic autosomal dominant - local, Amelogenesis imperfecta - hypoplastic autosomal dominant - local |
| RS1553888384 | Health Risk | Pathogenic | Amelogenesis imperfecta type 1C, Amelogenesis imperfecta type 1C |
| RS1738612312 | Health Risk | Pathogenic | Amelogenesis imperfecta - hypoplastic autosomal dominant - local, Amelogenesis imperfecta - hypoplastic autosomal dominant - local |
| RS2109817825 | Health Risk | Pathogenic | Amelogenesis imperfecta, Amelogenesis imperfecta |
| RS587776587 | Health Risk | Pathogenic | Amelogenesis imperfecta - hypoplastic autosomal dominant - local, Amelogenesis imperfecta - hypoplastic autosomal dominant - local |
| RS752102959 | Health Risk | Pathogenic | Amelogenesis imperfecta - hypoplastic autosomal dominant - local, Amelogenesis imperfecta - hypoplastic autosomal dominant - local, ENAM-related disorder |
| RS1060499539 | Health Risk | Pathogenic/Likely pathogenic | Amelogenesis imperfecta - hypoplastic autosomal dominant - local, Amelogenesis imperfecta - hypoplastic autosomal dominant - local |
| RS529979202 | Health Risk | Pathogenic/Likely pathogenic | Amelogenesis imperfecta type 1C, Amelogenesis imperfecta - hypoplastic autosomal dominant - local, Amelogenesis imperfecta type 1C |
| RS587776588 | Health Risk | Pathogenic/Likely pathogenic | Amelogenesis imperfecta type 1C, Amelogenesis imperfecta - hypoplastic autosomal dominant - local, ENAM-related disorder |