AMELX amelogenin X-linked
Gene ID: 265, updated on 2-Nov-2024Gene type: protein coding
Also known as: AMG; AI1E; AIH1; ALGN; AMGL; AMGX
- See all available tests in GTR for this gene
- Go to complete Gene record for AMELX
- Go to Variation Viewer for AMELX variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Amelogenesis imperfecta type 1E | See labs |
Genomic context
- Location:
- Xp22.2
- Sequence:
- Chromosome: X; NC_000023.11 (11293413..11309588)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AMELX variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- AMELX @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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