Entity Details

Primary name ENAM
Entity type gene
Source Source Link

Details

PrimaryID10117
RefseqGeneNG_013024
SymbolENAM
Nameenamelin
Chromosome4
Location4q13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-05-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsENAM_HUMAN

GO terms

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GOName
GO:0005576 extracellular region
GO:0005788 endoplasmic reticulum lumen
GO:0030345 structural constituent of tooth enamel
GO:0031012 extracellular matrix
GO:0031214 biomineral tissue development
GO:0036305 ameloblast differentiation
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0070175 positive regulation of enamel mineralization
GO:0097186 amelogenesis

Diseases

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Disease IDSourceNameDescription
104500 OMIMAmelogenesis imperfecta 1B (AI1B)An autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and widely spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI). The disease is caused by variants affecting the gene represented in this entry.
204650 OMIMAmelogenesis imperfecta 1C (AI1C)An autosomal recessive defect of dental enamel formation. Teeth show local hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
ENAMFAM20CIntAct25789606 details
ENAMFAM20AIntAct25789606 details
ENAMNEK4BioGRID, MINT25798074 details
ENAMNCLBioGRID, IntAct30021884 details