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Glucoside xylosyltransferase 2 (GXYLT2) is an enzyme that belongs to the glycosyltransferase 8 family[5][2]. It catalyzes the transfer of xylose to O-linked glucose residues on epidermal growth factor (EGF)-like repeats, notably present in the extracellular domain of Notch proteins[5][2][4]. This activity extends the O-glucose modification on Notch proteins, which is implicated in regulating Notch signaling—a pathway central to cell differentiation, proliferation, and apoptosis[1][2][5]. GXYLT2 has been characterized as a 443 amino acid protein and is also known as glycosyltransferase 8 domain-containing protein 4 (GLT8D4)[2]. Aberrant expression of GXYLT2 has been associated with pathological processes, including cancer progression—particularly gastric cancer—where it acts as an independent prognostic marker and may promote epithelial-mesenchymal transition (EMT), a process linked to increased tumor invasiveness and metastasis[1][2]. Additionally, mutations in GXYLT2 have been linked to conditions such as autosomal recessive limb-girdle muscular dystrophy type 2Z and Dowling-Degos disease[2]. No known drug interactions or approved modulators targeting GXYLT2 have been reported to date.
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