FSCN1

Chr 7

fascin actin-bundling protein 1

Also known as: HSN, SNL, p55

NCBI Gene: 6624 ENSG00000075618 UniProt: Q16658

The FSCN1 protein organizes actin filaments into parallel bundles and is essential for cell motility, migration, and formation of cellular protrusions including filopodia. Mutations cause autosomal recessive retinal dystrophy with early childhood onset, affecting vision and retinal function. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely poorly tolerated.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the fascin family of actin-binding proteins. Fascin proteins organize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusions. The encoded protein plays a critical role in cell migration, motility, adhesion and cellular interactions. Expression of this gene is known to be regulated by several microRNAs, and overexpression of this gene may play a role in the metastasis of multiple types of cancer by increasing cell motility. Expression of this gene is also a marker for Reed-Sternberg cells in Hodgkin's lymphoma. A pseudogene of this gene is located on the long arm of chromosome 15. [provided by RefSeq, Sep 2011]

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

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P/LP missense

0.41

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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