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ACVR1CA gene on chromosome 2q24.1 that encodes activin receptor type IC, a receptor that forms a complex with other type-I and two type-II transmembrane serine/threonine kinase receptors for activin, a dimeric growth and differentiating factor belonging to the TGF-beta superfamily of structurally related signalling proteins. After activin binding, type-I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors, playing roles in cell differentiation, growth arrest and apoptosis.
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