ENAM enamelin

Gene ID: 10117, updated on 1-Jul-2024
Gene type: protein coding
Also known as: ADAI; AI1C; AIH2

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

See all available tests in GTR for this gene

Description	Tests
Amelogenesis imperfecta - hypoplastic autosomal dominant - local MedGen: C0399368OMIM: 104500GeneReviews: Not available	See labs
Amelogenesis imperfecta type 1C MedGen: C2673923OMIM: 204650GeneReviews: Not available	See labs

Genomic context

Location:: 4q13.3

Sequence:: Chromosome: 4; NC_000004.12 (70628744..70646824)

Total number of exons:: 9

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
ENAM database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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