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Activin A receptor, type I (ACVR1) belongs to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. ACVR1 signals a specific transcriptional response in concert with activin type II receptors. The ACVR1 gene encodes activin A type I receptor, which signals a particular transcriptional response in concert with activin type II receptors. Mutations in ACVR1 have been linked to Fibrodysplasia Ossificans Progressiva (FOP), a rare genetic disorder characterized by the formation of bone in muscles, tendons, and other connective tissues, as well as Epicanthus.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: activin A receptor type I; activin A receptor, type 1; activin A receptor, type I; activin A receptor, type II-like kinase 2; Activin receptor type I; Activin receptor type-1; Activin receptor-like kinase 2; activin type I receptor; ACTR-I; ALK-2; ALK2-B; hydroxyalkyl-protein kinase; Serine/threonine-protein kinase receptor R1; SKR1; TGF-B superfamily receptor type I; TSR-I
Gene Aliases: ACTRI; ACVR1; ACVR1A; ACVRLK2; ALK2; FOP; SKR1; TSRI
UniProt ID: (Human) Q04771, (Rat) P80201
Entrez Gene ID: (Human) 90, (Rat) 79558
Molecular Function:
serine/threonine protein kinase receptor
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