ADAMTS Like 2 (ADAMTSL2) Antibody

Background

ADAMTSL2 is an extracellular glycoprotein known for its role in ECM organization and fibrillin microfibril regulation. Mutations in the ADAMTSL2 gene have been linked to Geleophysic dysplasia, a rare autosomal recessive disorder characterized by short stature, joint contractures, and cardiac valvular defects. ADAMTSL2 interacts with fibrillin-1 and modulates TGF-β signaling, critical for connective tissue homeostasis. Its abnormal activity or deficiency can lead to excessive TGF-β signaling, contributing to developmental abnormalities. ADAMTSL2 is widely expressed in connective tissues, including cartilage, bone, and cardiovascular structures, reflecting its importance in ECM stability and integrity.