BRK1

Chr 3

BRICK1 subunit of SCAR/WAVE actin nucleating complex

Also known as: C3orf10, HSPC300, MDS027, hHBrk1

NCBI Gene: 55845 ENSG00000254999 UniProt: Q8WUW1

The protein regulates actin and microtubule organization as part of the WAVE complex that activates the Arp2/3 complex and is required for BDNF-NTRK2 endocytic trafficking and signaling. Mutations cause autosomal recessive developmental and epileptic encephalopathy with brain atrophy, presenting in infancy with seizures, developmental delays, and progressive brain volume loss. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.785).

ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity. Contributes to small GTPase binding activity. Involved in Rac protein signal transduction and positive regulation of cellular component organization. Located in extracellular exosome. Part of SCAR complex. [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

—

P/LP missense

0.79

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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