FJX1

Chr 11

four-jointed box kinase 1

NCBI Gene: 24147 ENSG00000179431 UniProt: Q86VR8

The protein acts as an inhibitor of dendrite extension and branching, though its exact function in humans remains unclear based on homology to Drosophila developmental genes. The gene is highly constrained against loss-of-function variation (pLI 0.94, LOEUF 0.33), but no established human disease associations have been reported to date.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is the human ortholog of mouse and Drosophila four-jointed gene product. The Drosophila protein is important for growth and differentiation of legs and wings, and for proper development of the eyes. The exact function of this gene in humans is not known. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.33

LOEUF· LoF intol.

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429