EXT1 Antibody

Molecular and Functional Basis of EXT1

The EXT1 gene encodes exostosin-1, a glycosyltransferase that forms a heterodimeric complex with EXT2 in the Golgi apparatus . This complex catalyzes heparan sulfate chain elongation, essential for regulating cell signaling, growth factor activity, and extracellular matrix interactions . EXT1 mutations are linked to hereditary multiple osteochondromas (HME) and trichorhinophalangeal syndrome type II (TRPS II) .

Key Applications of EXT1 Antibody

EXT1 antibodies are used across diverse experimental protocols:

Cancer Biology

• Breast Cancer: EXT1 overexpression correlates with aggressive HER2-positive and basal-like subtypes. Knockout (EXT1-KO) in MDA-MB-231 cells reduced tumor growth by 60% (p < 0.01) and abolished lung metastasis in murine models .

• Mechanism: EXT1-HSPG axis activates STAT3 signaling, driving epithelial-mesenchymal transition (EMT) and cell migration .

Autoimmune Disease

• Lupus Nephritis (LN): EXT1 positivity in renal biopsies predicted better outcomes:

  • 73.3% of confirmed LN cases showed EXT1 deposits vs. 16.2% in suspected cases (p < 0.001) .

  • EXT1-positive patients achieved higher complete remission rates (HR: 5.647; p = 0.019) .

Skeletal Disorders

• Hereditary Multiple Osteochondromas (HME): Over 480 EXT1 loss-of-function mutations disrupt HSPG synthesis, leading to benign bone tumors .

Technical Considerations

• Sample Preparation: Antigen retrieval using citrate buffer (pH 6) enhances IHC/IF detection .

• Validation: Knockout/knockdown controls (e.g., EXT1-D164A catalytically inactive mutant) confirm specificity .

• Storage: Stable at -20°C in PBS with 0.05% sodium azide .

Emerging Therapeutic Implications

EXT1 antibodies are explored for:

• Diagnostic Biomarkers: Differentiating lupus membranous nephropathy subtypes .

• Therapeutic Targets: Inhibiting STAT3-driven metastasis in breast cancer .