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GenoLensGenoLens

ACP4

Chr 19q13.33

acid phosphatase 4

MANE:
ENST00000270593.2

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Amelogenesis imperfecta

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Hypoplastic amelogenesis imperfecta

    0.78
  • amelogenesis imperfecta, type 1J

    0.69
  • amelogenesis imperfecta

    0.18
  • amelogenesis imperfecta type 1

    0.12
  • Hypomaturation amelogenesis imperfecta

    0.10
  • nephrolithiasis

    0.10
  • amelogenesis imperfecta, IIa 1K

    0.07
  • amelogenesis imperfecta hypomaturation type 2A4

    0.07
  • amelogenesis imperfecta type 3B

    0.07
  • amelogenesis imperfecta, type 3A

    0.06

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

Protein function (UniProt)

Testicular acid phosphatase

Protein tyrosine phosphatase that dephosphorylates the receptor tyrosine-protein kinase ERBB4, thereby inhibiting its ligand-induced proteolytic cleavage (PubMed:15219672). Involved in odontogenesis (PubMed:27843125). Regulates odontoblast cell fate via its extracellular catalytic domain by inhibiting proliferation and promoting differentiation (By similarity)

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.