Skip to content
GenoLensGenoLens

AMBN

Chr 4q13.3

ameloblastin

MANE:
ENST00000322937.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Amelogenesis imperfecta

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • amelogenesis imperfecta

    0.59
  • Hypoplastic amelogenesis imperfecta

    0.59
  • plasma cell myeloma

    0.10
  • Hypomaturation amelogenesis imperfecta

    0.09
  • tooth agenesis

    0.07
  • osteosarcoma

    0.06
  • amelogenesis imperfecta hypomaturation type 2A4

    0.06
  • amelogenesis imperfecta, type 3A

    0.06
  • amelogenesis imperfecta, type 1J

    0.06
  • dentinogenesis imperfecta type 3

    0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ameloblastin

Involved in the mineralization and structural organization of enamel

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.