CLUAP1

Chr 16

intraflagellar transport 38

Also known as: CFAP22, CLUAP1, FAP22

NCBI Gene: 23059 ENSG00000103351 UniProt: Q96AJ1

The protein is required for cilia biogenesis and functions within the intraflagellar transport complex B (IFT-B) as a key regulator of hedgehog signaling. Mutations cause autosomal recessive ciliopathies including Joubert syndrome and nephronophthisis, which are multisystem disorders affecting the brain, kidneys, and other organs. The gene shows low constraint to loss-of-function variants (pLI = 0.0004), consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.68

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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