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CFAP74

Chr 1p36.33

cilia and flagella associated protein 74

Aliases:
FLJ45476
MANE:
ENST00000682832.2

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Respiratory ciliopathies including non-CF bronchiectasis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • ciliary dyskinesia, primary, 49, without situs inversus

    0.68
  • primary ciliary dyskinesia

    0.37
  • endocrine system disorder

    0.28
  • influenza A (H1N1)

    0.26
  • Abnormal male internal genitalia morphology

    0.24
  • placental abruption

    0.24
  • cholelithiasis

    0.22
  • kidney failure

    0.21
  • ovarian dysfunction

    0.18
  • arthropathy

    0.17

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

Protein function (UniProt)

Cilia- and flagella-associated protein 74

As part of the central apparatus of the cilium axoneme may play a role in cilium movement. May play an important role in sperm architecture and function

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.