FEZ1

Chr 11

fasciculation and elongation protein zeta 1

Also known as: UNC-76

NCBI Gene: 9638 ENSG00000149557 UniProt: Q99689

This protein functions in axonal outgrowth and guidance, and participates in the transport of mitochondria and other cargos along microtubules. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and seizures, inherited in an autosomal recessive pattern. The gene shows high constraint against loss-of-function variants (LOEUF 0.41), consistent with its essential role in neuronal development.

ResearchSummary from RefSeq, UniProt

This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. [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)

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P/LP submissions

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P/LP missense

0.41

LOEUF

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Mechanism

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