Calmodulin-binding transcription activator 1 (CAMTA1)

Calmodulin-binding transcription activator 1 is a multidomain transcription factor containing a CG1 DNA-binding domain, an immunoglobulin-like transcription factor domain, ankyrin repeats, and calmodulin-binding IQ motifs. It regulates gene expression in the brain, playing key roles in neuronal differentiation and long-term memory formation, and acts as a tumor suppressor in several cancers. Pathogenic variants, including gene fusions (e.g., WWTR1-CAMTA1/TAZ::CAMTA1), are highly diagnostic and mechanistically implicated in cancers such as epithelioid hemangioendothelioma, while intragenic deletions or rearrangements cause neurodevelopmental disorders (CECBA). CAMTA1’s wide-ranging biological importance makes it an attractive candidate for research in oncology, neurology, and biomarker development, though its essential roles present a therapeutic challenge for direct targeting.

Other names

CAMTA1KIAA0833MSTP023CANPMRCECBA

When targeted indirectly (e.g., in EHE), drugs or investigational therapies may seek to disrupt the WWTR1-CAMTA1 fusion or downstream oncogenic pathways (e.g., TEAD binding, Hippo pathway modulation), inhibit epigenetic recruitment, or induce apoptosis in fusion-driven cancer cells