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CFAP54

Chr 12q23.1

cilia and flagella associated protein 54

Aliases:
FLJ31514, FLJ44112
MANE:
ENST00000524981.9
OMIM: 621121 ↗NCBI: 144535 ↗Ensembl ↗

Annotations refreshed 1 month 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)

  • spermatogenic failure 98

    0.51

  • ciliary dyskinesia, primary, 54

    0.49

  • cervical carcinoma

    0.39

  • response to antihypertensive drug

    0.27

  • crush injury

    0.27

  • poisoning

    0.26

  • hypersomnia

    0.26

  • respiratory system disorder

    0.22

  • polyarteritis nodosa

    0.19

  • adolescent idiopathic scoliosis

    0.16

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

Protein function (UniProt)

Cilia- and flagella-associated protein 54

Required for assembly and function of cilia and flagella

Diseases associated with CFAP54

Curated MONDO disease pages that list CFAP54 among their top associated genes.

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.