InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ENAM

Summary

InnateDB Protein

IDBP-238264.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ENAM

Protein Name

enamelin

Synonyms

ADAI; AI1C; AIH2;

Species

Homo sapiens

Ensembl Protein

ENSP00000379383

InnateDB Gene

IDBG-22585 (ENAM)

Protein Structure

UniProt Annotation

Function

Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation.

Subcellular Localization

Secreted, extracellular space, extracellular matrix.

Disease Associations

Amelogenesis imperfecta 1B (AI1B) [MIM:104500]: 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). {ECO:0000269PubMed:11487571, ECO:0000269PubMed:11978766}. Note=The disease is caused by mutations affecting the gene represented in this entry.Amelogenesis imperfecta 1C (AI1C) [MIM:204650]: 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. {ECO:0000269PubMed:14684688}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in tooth particularly in odontoblast, ameloblast and cementoblast.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process