Overview:

ALK2 belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins which encodes activin A type I receptor. ALK2 signals a particular transcriptional response in concert with activin type II receptors. Mutations in ALK2 are associated with fibrodysplasia ossificans progressiva (FOP) and the mutations are located in or adjacent to the GS regulatory region or active site of the kinase. The mutations in ALK2 were predicted by protein structure homology modeling to activate the ALK2 protein and enhance receptor signaling (1). Dysregulated ALK2 kinase activity plays a role in the pathogenesis of FOP (2).

Gene Aliases:

ACVR1, FOP, SKR1, TSRI, ACTRI, ACVR1A, ACVRLK2

Genbank Number:

NM_001105

References:

1. Kaplan, F. S.et.al:Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum. Mutat. 30: 379-390, 2009.

2. Yu, P. B.et.al: BMP type I receptor inhibition reduces heterotropic ossification. Nature Med. 14: 1363-1369, 2008.