ACVR2B
ACVR2B: A Gene with Diverse Roles in Human Health and Disease
Description
ACVR2B (Activin Receptor Type 2B) is a gene that encodes a protein involved in the Transforming Growth Factor Beta (TGF-β) signaling pathway. This pathway regulates a wide range of cellular processes, including cell growth, differentiation, and homeostasis.
ACVR2B is located on chromosome 3p22.3 and consists of 12 exons. It is a transmembrane protein with an extracellular ligand-binding domain and an intracellular serine/threonine kinase domain.
Associated Diseases
Mutations in the ACVR2B gene have been associated with several human diseases, including:
- Fibrodysplasia ossificans progressiva (FOP): A rare genetic disorder characterized by the progressive formation of heterotopic bone in soft tissues, tendons, and ligaments.
- Greig cephalopolysyndactyly (GCPS): A disorder characterized by craniofacial abnormalities, postaxial polydactyly, and learning disabilities.
- Malignant melanoma: A type of skin cancer that arises from melanocytes.
- Parkinson‘s disease: A neurodegenerative disorder characterized by tremors, rigidity, and bradykinesia.
Did you Know ?
- Mutations in the ACVR2B gene are responsible for over 90% of cases of FOP.
