Enables activin receptor activity, type I. Involved in cellular response to glucocorticoid stimulus; regulation of skeletal muscle tissue development; and transforming growth factor beta receptor signaling pathway. Acts upstream of or within urogenital system development. Part of activin receptor complex. Human ortholog(s) of this gene implicated in exfoliation syndrome; fibrodysplasia ossificans progressiva; primary angle-closure glaucoma; and primary open angle glaucoma. Orthologous to human ACVR1 (activin A receptor type 1); PARTICIPATES IN activin signaling pathway; cytokine mediated signaling pathway; transforming growth factor-beta superfamily mediated signaling pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3,3',4,4',5-pentachlorobiphenyl; 6-propyl-2-thiouracil.
activin A receptor, type 1; activin A receptor, type I; activin receptor type I; activin receptor type-1; activin type I receptor; ACTR-I; ALK2-B; serine/threonine-protein kinase receptor R1; SKR1; TGF-B superfamily receptor type I; TSR-I
Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfoliation glaucoma patients of Saudi origin.
Association of rs12997 variant in the ACVR1 gene: a member of bone morphogenic protein signaling pathway with primary open-angle glaucoma in a Saudi cohort.
Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva.
AcvR1-mediated BMP signaling in second heart field is required for arterial pole development: implications for myocardial differentiation and regional identity.
The tumor suppressor gene Trp53 protects the mouse lens against posterior subcapsular cataracts and the BMP receptor Acvr1 acts as a tumor suppressor in the lens.