ENAM Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
ENAM
Official Name
enamelin [Source:HGNC Symbol;Acc:HGNC:3344]
Ensembl ID
ENSG00000132464
Bio databases IDs NCBI: 10117 Ensembl: ENSG00000132464
Aliases enamelin
Synonyms abte, ADAI, AI1C, AIH2, Enamelin
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ENAM often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • structural constituent of tooth enamel
  • Enamelin
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • amelogenesis imperfecta type IB
  • amelogenesis imperfecta type IC
  • amelogenesis imperfecta
regulated by
role in cell
  • differentiation
  • morphogenesis

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • endoplasmic reticulum lumen
  • extracellular matrix

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ENAM gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of enamel mineralization
  • amelogenesis
  • biomineral tissue development

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum lumen
  • extracellular matrix
  • extracellular region

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • structural constituent of tooth enamel

Gene-Specific Assays for Results You Can Trust

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