Entity Details

Primary name AMBN
Entity type gene
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Details

PrimaryID258
RefseqGeneNG_042078
SymbolAMBN
Nameameloblastin
Chromosome4
Location4q13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1997-11-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsAMBN_HUMAN

GO terms

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GOName
GO:0005576 extracellular region
GO:0005788 endoplasmic reticulum lumen
GO:0007155 cell adhesion
GO:0008083 growth factor activity
GO:0030345 structural constituent of tooth enamel
GO:0031214 biomineral tissue development
GO:0042127 regulation of cell population proliferation
GO:0042475 odontogenesis of dentin-containing tooth
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process

Diseases

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Disease IDSourceNameDescription
616270 OMIMAmelogenesis imperfecta 1F (AI1F)A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1F is characterized by hypoplastic enamel of the primary and secondary dentition. The disease is caused by variants affecting the gene represented in this entry.