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Functional Study

Entrez GeneID

Protein Accession#

Gene Name

ACVR1

Gene Alias

ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1, TSRI

Gene Description

activin A receptor, type I

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

TGF-B superfamily receptor type I|activin A receptor, type II-like kinase 2|activin A type I receptor|hydroxyalkyl-protein kinase|serine/threonine-protein kinase receptor R1