ACVR1 (ALK2) belongs to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins which encodes activin A type I receptor. ACVR1 signals a particular transcriptional response in concert with activin type II receptors. Mutations in ACVR1 are associated with fibrodysplasia ossificans progressiva (FOP) and the mutations are located in or adjacent to the GS regulatory region or active site of the kinase. The mutations in ACVR1 were predicted by protein structure homology modeling to activate the ACVR1 protein and enhance receptor signaling. Dysregulated ACVR1 kinase activity plays a role in the pathogenesis of FOP. Recombinant human ACVR1 (R206H) (147-end) was expressed by baculovirus in Sf9 insect cells using an N-terminal GST tag.
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