This product is an active protein and may elicit a biological response in vivo, handle with caution.
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
Hydroxyalkyl protein kinase
Serine/threonine-protein kinase receptor R1
TGF-B superfamily receptor type I
TGFB superfamily receptor type I
On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis.
Expressed in normal parenchymal cells, endothelial cells, fibroblasts and tumor-derived epithelial cells.
Involvement in disease
Defects in ACVR1 are a cause of fibrodysplasia ossificans progressiva (FOP) [MIM:135100]. FOP is a rare autosomal dominant disorder of skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification in FOP begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to extra-articular ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible.
Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Contains 1 GS domain. Contains 1 protein kinase domain.