Recombinant Human EXT1 protein

EXT1 recombinant protein is derived from the EXostosin 1 (EXT1) gene, which encodes a critical enzyme involved in the biosynthesis of heparan sulfate proteoglycans (HSPGs). HSPGs are essential components of the extracellular matrix and cell surfaces, playing pivotal roles in cell signaling, adhesion, and interactions with growth factors, cytokines, and pathogens. The EXT1 protein, along with its homolog EXT2. forms a hetero-oligomeric complex in the Golgi apparatus, functioning as a glycosyltransferase responsible for the elongation of heparan sulfate chains. Mutations in the EXT1 gene are linked to hereditary multiple osteochondromas (HMO), a disorder characterized by benign bone tumors, and are associated with increased risk of malignant transformation into chondrosarcoma.

Recombinant EXT1 protein is typically produced using expression systems such as mammalian cells (e.g., HEK293 or CHO cells) or insect cells to ensure proper post-translational modifications, including glycosylation, which is critical for its enzymatic activity. Its production enables researchers to study HSPG biosynthesis mechanisms, investigate disease-related mutations, and develop assays for drug screening or therapeutic targeting.

In research, EXT1 recombinant protein is utilized to explore its structural and functional interactions with EXT2. heparan sulfate polymerization, and its role in developmental pathways like Wnt, Hedgehog, and FGF signaling. It also serves as a tool to model HMO-related pathologies and validate gene therapy approaches. Challenges in its production include maintaining stability and catalytic efficiency, necessitating optimized expression and purification protocols. Overall, EXT1 recombinant protein is a vital resource for advancing understanding of HSPG biology and related diseases.