ENAM enamelin
Gene ID: 10117, updated on 17-Sep-2024Gene type: protein coding
Also known as: ADAI; AI1C; AIH2
- See all available tests in GTR for this gene
- Go to complete Gene record for ENAM
- Go to Variation Viewer for ENAM variants
Summary
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]
Associated conditions
Genomic context
- Location:
- 4q13.3
- Sequence:
- Chromosome: 4; NC_000004.12 (70628744..70646824)
- Total number of exons:
- 9
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for ENAM variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- ENAM database
- 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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