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SLC24A4

Chr 14q32.12

solute carrier family 24 member 4

Aliases:
NCKX4
MANE:
ENST00000532405.6

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Amelogenesis imperfecta

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Hypomaturation amelogenesis imperfecta

    0.68
  • amelogenesis imperfecta

    0.65
  • hair color

    0.49
  • Alzheimer disease

    0.44
  • eye color

    0.41
  • hypocalcified amelogenesis imperfecta

    0.37
  • smoking initiation

    0.34
  • late-onset Alzheimers disease

    0.32
  • ovarian dysfunction

    0.31
  • squamous cell carcinoma

    0.29

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

Protein function (UniProt)

Sodium/potassium/calcium exchanger 4

Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) (PubMed:12379639, PubMed:26631410). Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs) which subsequently influences how odor information is encoded and perceived (By similarity). May play a role in calcium transport during amelogenesis (PubMed:23375655, PubMed:24621671)

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.