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Gene : AMELX Homo sapiens

Name  ? amelogenin X-linked Cytological Location  Xp22.2
Brief Description  amelogenin X-linked
Description  This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
  • synonyms:
  • AIH1,
  • HGNC:461,
  • NM_001142,
  • amelogenin (X chromosome, amelogenesis imperfecta 1),
  • AMGL,
  • AMELX,
  • AMG,
  • AI1E,
  • AMGX,
  • AIH1,
  • amelogenesis imperfecta 1,
  • ALGN,
  • uc004cut.3,
  • AMG,
  • OTTHUMG00000021130
  • identifiers:
  • 265,
  • ENSG00000125363,

Genome feature

Region: gene ? Length: 10737  
Location: X:11293413-11304149 Cyto location: Xp22.2

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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0 SNPs

4 Cross References

14 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results