ACVR1C
ACVR1C: A Key Gene in Skeletal Development and Disease
Description
ACVR1C, also known as activin receptor type 1C, is a gene that encodes a protein involved in cellular signaling pathways that regulate growth, differentiation, and development. Located on chromosome 2q24.3, ACVR1C plays a vital role in the formation and maintenance of bone and cartilage.
Associated Diseases
Mutations in the ACVR1C gene have been linked to several skeletal diseases, including:
- Fibrodysplasia Ossificans Progressiva (FOP): A rare and debilitating condition characterized by the formation of bone within soft tissues, such as muscles, ligaments, and tendons. Mutations in ACVR1C impair the normal regulation of bone formation, leading to excessive and uncontrolled growth of bone outside the skeleton.
- Multiple Hereditary Exostoses (MHE): A condition characterized by the development of benign bone tumors called exostoses on the outer surfaces of bones. Mutations in ACVR1C disrupt the growth of cartilage and contribute to the formation of these exostoses.
- Cleft Lip and Palate: ACVR1C mutations have been implicated in the development of cleft lip and palate, which are birth defects involving a split in the lip or roof of the mouth.
- Scoliosis: Certain mutations in ACVR1C have been associated with an increased risk of scoliosis, a lateral curvature of the spine.
Did you Know ?
Approximately 1 in 1,000,000 people are affected by FOP, making it one of the rarest known diseases.
