Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders

ALK2, the product of ACVR1, is a member of the TGFβ family subgroup of type I bone morphogenetic protein (BMP) receptors that includes ALK1, ALK3 and ALK6 [1]. ALK2 partners with type II BMP receptors - including BMPRII and activin receptor type-2A (ACVRIIA) - to form tetrameric complexes that signal mainly via the canonical SMAD1/5/8 BMP signaling pathway in response to ligand binding but can also activate non-canonical signaling such as through p38MAPK [1,2]. ALK2 is able to bind several ligands in vitro such as BMP4, BMP6, BMP7, BMP9 and activins, but the identity and spectrum of its natural ligands in vivo are not clear [3–5].
Source: Cytokine and Growth Factor Reviews - Category: Molecular Biology Authors: Tags: Survey Source Type: research