POMGNT1抗体

The POMGNT1 antibody targets the protein product of the *POMGNT1* gene, which encodes a key glycosyltransferase involved in the post-translational modification of α-dystroglycan (α-DG). This enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to O-linked mannose residues, a critical step in the formation of the matriglycan structure necessary for α-DG's receptor function in the extracellular matrix. Mutations in *POMGNT1* disrupt this glycosylation process, leading to a subset of congenital muscular dystrophies known as dystroglycanopathies, including Muscle-Eye-Brain disease (MEB) and Walker-Warburg syndrome (WWS). These disorders are characterized by severe muscle weakness, brain malformations, and ocular abnormalities. POMGNT1 antibodies are essential tools in research and diagnostics, enabling the detection of protein expression levels, localization, and glycosylation status in tissues or cell models. They are widely used in Western blotting, immunohistochemistry, and immunofluorescence to study disease mechanisms, validate gene-editing outcomes, or assess therapeutic interventions. Commercially available antibodies vary in specificity, often targeting epitopes within the N-terminal or catalytic domains. Validation in knockout models or patient-derived cells is critical to confirm antibody reliability, given the clinical implications of misdiagnosis in neuromuscular disorders.