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TTC12

Chr 11q23.2

tetratricopeptide repeat domain 12

Aliases:
FLJ13859, FLJ20535, TPARM
MANE:
ENST00000529221.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Respiratory ciliopathies including non-CF bronchiectasis

    BIALLELIC, autosomal or pseudoautosomal
  • Primary ciliary disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • ciliary dyskinesia, primary, 45

    0.69
  • Abnormal sperm morphology

    0.46
  • primary ciliary dyskinesia

    0.46
  • Reduced sperm motility

    0.46
  • hereditary disease

    0.42
  • depressive disorder

    0.32
  • mental disorder

    0.31
  • mood disorder

    0.31
  • major depressive disorder

    0.30
  • neurotic disorder

    0.23

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

Protein function (UniProt)

Tetratricopeptide repeat protein 12

Cytoplasmic protein that plays a role in the proper assembly of dynein arm complexes in motile cilia in both respiratory cells and sperm flagella

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.