AMELX (amelogenin X-linked)

2007-04-01  

Identity

HGNC
LOCATION
Xp22.2
LOCUSID
ALIAS
AI1E,AIH1,ALGN,AMG,AMGL,AMGX

Other Information

Locus ID:

NCBI: 265
MIM: 300391
HGNC: 461
Ensembl: ENSG00000125363

Variants:

dbSNP: 265
ClinVar: 265
TCGA: ENSG00000125363
COSMIC: AMELX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125363ENST00000348912Q99217
ENSG00000125363ENST00000380712Q99217
ENSG00000125363ENST00000380714Q99217

Expression (GTEx)

0
1

References

Pubmed IDYearTitleCitations
384095762024AMELX gene association to early childhood caries in south-Indian children: a case-control study.0
388923212024AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.0
384095762024AMELX gene association to early childhood caries in south-Indian children: a case-control study.0
388923212024AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.0
375638012023Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4.0
379859772023Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.0
375638012023Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4.0
379859772023Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.0
358860552022An 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
358860552022An 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
318382952020DNA sequencing reveals AMELX, ODAM and MMP20 variations in dental fluorosis.5
318382952020DNA sequencing reveals AMELX, ODAM and MMP20 variations in dental fluorosis.5
311851862019A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation.6
311851862019A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation.6
283824652018Significance 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/case-report-explorer/js/meetings/