Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 265
MIM: 300391
HGNC: 461
Ensembl: ENSG00000125363
Variants:
dbSNP: 265
ClinVar: 265
TCGA: ENSG00000125363
COSMIC: AMELX
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000125363 | ENST00000348912 | Q99217 |
| ENSG00000125363 | ENST00000380712 | Q99217 |
| ENSG00000125363 | ENST00000380714 | Q99217 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38409576 | 2024 | AMELX gene association to early childhood caries in south-Indian children: a case-control study. | 0 |
| 38892321 | 2024 | AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta. | 0 |
| 38409576 | 2024 | AMELX gene association to early childhood caries in south-Indian children: a case-control study. | 0 |
| 38892321 | 2024 | AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta. | 0 |
| 37563801 | 2023 | Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4. | 0 |
| 37985977 | 2023 | Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta. | 0 |
| 37563801 | 2023 | Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4. | 0 |
| 37985977 | 2023 | Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta. | 0 |
| 35886055 | 2022 | An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature. | 3 |
| 35886055 | 2022 | An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature. | 3 |
| 31838295 | 2020 | DNA sequencing reveals AMELX, ODAM and MMP20 variations in dental fluorosis. | 5 |
| 31838295 | 2020 | DNA sequencing reveals AMELX, ODAM and MMP20 variations in dental fluorosis. | 5 |
| 31185186 | 2019 | A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation. | 6 |
| 31185186 | 2019 | A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation. | 6 |
| 28382465 | 2018 | Significance of genetic variations in developmental enamel defects of primary dentition in Polish children. | 7 |
Citation
Dessen P
AMELX (amelogenin X-linked)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/46794/amelx
