While knockout models with this gene are in progress, the ACVR1 gene has been connected to fibrodysplasia ossificans progressiva, an extremely rare progressive genetic disease characterized by heterotopic ossification of muscles, tendons, and ligaments.

[9] Gain-of-function mutations in the gene ACVR1/ALK2 is responsible for the genetic disease fibrodysplasia ossificans progressiva (FOP).

[12] Atypical mutations involving other residues work similarly, thereby causing the protein to be stuck in its active conformation despite no BMP being present.

[13] Mutations in the ACVR1 gene have also been linked to cancer, especially diffuse intrinsic pontine glioma (DIPG).

[14][15][16] This article incorporates text from the United States National Library of Medicine, which is in the public domain.