The EXT1 antibody targets the exostosin-1 (EXT1) protein, a critical enzyme in heparan sulfate proteoglycan (HSPG) biosynthesis. EXT1. encoded by the *EXT1* gene on chromosome 8q24. forms a heterocomplex with EXT2 to catalyze the polymerization of heparan sulfate chains. These chains regulate cell signaling, adhesion, and matrix interactions. Mutations in *EXT1* are linked to Hereditary Multiple Osteochondromas (HMO), a disorder characterized by benign bone tumors.
EXT1 antibodies are widely used in research to study HSPG-related pathways, including Wnt, FGF, and Hedgehog signaling, which are crucial in development and cancer. They aid in detecting EXT1 expression via techniques like Western blot, immunohistochemistry (IHC), and immunofluorescence (IF), helping to correlate protein levels with diseases. In cancer biology, reduced EXT1 expression is observed in hepatocellular carcinoma, leukemia, and breast cancer, suggesting a tumor-suppressive role.
Clinically, EXT1 antibodies assist in diagnosing HMO and differentiating osteochondroma subtypes. They also explore therapeutic targets, as HSPG dysregulation impacts tumor metastasis and angiogenesis. Commercial EXT1 antibodies are typically monoclonal or polyclonal, validated for specificity in human and model organisms. Challenges include cross-reactivity with EXT2 due to structural homology, necessitating careful validation. Overall, EXT1 antibodies are vital tools for understanding extracellular matrix biology and disease mechanisms.