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acvr1

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Official Full Name
activin A receptor, type I
Background
Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta);superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor;serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors;are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a;transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are;essential for signaling; and type II receptors are required for binding ligands and for expression of type I;receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I;receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional;response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia;ossificans progressive.
Synonyms
ACVR1; activin A receptor, type I; ACVRLK2; activin receptor type-1; ACVR1A; ALK2; SKR1; activin receptor type I; hydroxyalkyl-protein kinase; activin receptor-like kinase 2; TGF-B superfamily receptor type I; activin A receptor, type II-like kinase 2; se; serine/threonine-protein kinase receptor R1; FOP; TSRI; ACTRI; FOP, ALK2, SKR1, TSRI, ACTRI, ACVR1A, ACVRLK2; type I TGF B receptor