{"symbol":"ACVR1","synonyms":["ACTRI","TSRI","ACVR1A","ACVRLK2","ALK2","SKR1"],"name":"activin A receptor, type I","description":"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. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":90,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/90","proteins":[{"symbol":"ACVR1_HUMAN","href":"/api/1.0/protein/ACVR1_HUMAN"}],"hgncRootFamilies":[{"name":"Receptor kinases","href":"/api/1.0/gene_family/Receptor+kinases"}]}