RFLNB

Chr 17

refilin B

Also known as: CFM1, FAM101B

NCBI Gene: 359845 ENSG00000183688 UniProt: Q8N5W9

The RFLNB protein regulates the perinuclear actin network and nuclear shape through filamin binding and plays an essential role in cartilaginous skeletal element formation. Mutations cause autosomal recessive spondylocarpotarsal synostosis syndrome, characterized by vertebral fusions and joint abnormalities affecting the skeletal system. The gene shows moderate tolerance to loss-of-function variants based on population genetics data.

ResearchSummary from RefSeq, UniProt

Enables filamin binding activity. Predicted to be involved in several processes, including actin filament bundle organization; negative regulation of bone mineralization involved in bone maturation; and negative regulation of chondrocyte development. Predicted to act upstream of or within actin cytoskeleton organization and epithelial to mesenchymal transition. Predicted to be located in actin cytoskeleton and cytoplasm. Predicted to be active in actin filament bundle. [provided by Alliance of Genome Resources, Jul 2025]

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

1.27

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

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