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KLK4

Chr 19q13.41

kallikrein related peptidase 4

Aliases:
EMSP, EMSP1, PSTS, KLK-L1
MANE:
ENST00000324041.6

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)

  • Hypomaturation amelogenesis imperfecta

    0.67
  • amelogenesis imperfecta

    0.52
  • Graves disease

    0.35
  • stroke disorder

    0.20
  • hereditary disease

    0.19
  • alcohol drinking

    0.19
  • male infertility

    0.11
  • prostate carcinoma

    0.11
  • prostate cancer

    0.11
  • Familial prostate cancer

    0.11

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

Protein function (UniProt)

Kallikrein-4

Has a major role in enamel formation (PubMed:15235027). Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix (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.