ACVR1 Proteins

Protein Information

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.

Synonyms

activin A receptor type 1; 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; ACTRI; ACTR-I; ActRIA; Acvr; Acvr1; ACVR1A; ACVRLK2; ALK2; ALK-2; ALK2-B; Alk8; D330013D15Rik; FOP; hydroxyalkyl-protein kinase; serine/threonine-protein kinase receptor R1; SKR1; TGF-B superfamily receptor type I; Tgfb1; Tsk7L; TSK-7L; TSRI; TSR-I; Type I TGF B receptor