ACVR1 : activin A receptor type 1

The ACVR1 gene holds the blueprint for producing the activin receptor type-1 (ACVR1) protein, a crucial player in the bone morphogenetic protein (BMP) receptor family. These receptors act as gatekeepers on the cell‘s surface, spanning the membrane to connect external signals to the inner workings of the cell. Their primary role lies in orchestrating cell growth, development, and function.

Mutations in the ACVR1 gene can disrupt its normal functioning, leading to an array of skeletal disorders. These conditions primarily affect bone and muscle development:

• Fibrodysplasia Ossificans Progressiva (FOP): A rare genetic disorder characterized by the progressive formation of bone outside the skeleton, resulting in muscle and joint rigidity.
• Multiple Osteochondromas (MO): A disorder featuring multiple noncancerous bone tumors known as osteochondromas, often leading to bone deformities and pain.
• Gigantism and Acromegaly: Conditions caused by overgrowth of bones due to excessive production of growth hormone, which may be triggered by disruptions in the ACVR1 pathway.

Did you Know ?

A study involving over 1,000 individuals with FOP revealed that approximately 97% of cases were linked to mutations in the ACVR1 gene, highlighting its significant role in this devastating disorder.