ATP7A 抗体;ATP7A Antibody—艾普蒂

ATP7A antibody is a crucial tool in studying the copper-transporting ATPase ATP7A, a protein essential for cellular copper homeostasis. ATP7A facilitates copper efflux from cells, enabling its incorporation into cuproenzymes and regulating systemic copper distribution. Mutations in the ATP7A gene cause Menkes disease, a lethal X-linked recessive disorder characterized by severe copper deficiency, neurological impairment, and connective tissue abnormalities. ATP7A antibodies are widely used to investigate protein expression, localization, and dysfunction in research models and clinical diagnostics. These antibodies typically target specific epitopes, such as the N-terminal copper-binding domain or transmembrane regions, enabling applications like Western blotting, immunohistochemistry, and immunofluorescence. Studies using ATP7A antibodies have revealed its dynamic trafficking between the trans-Golgi network and cell membrane in response to copper levels. In diagnostics, they aid in confirming Menkes disease by detecting absent or truncated ATP7A in patient fibroblasts. Additionally, ATP7A antibodies contribute to exploring copper metabolism links to neurodegenerative diseases (e.g., Alzheimer's) and cancer, where altered copper dynamics influence tumor progression. Both monoclonal and polyclonal variants exist, with validation in knockout models being critical for specificity. Ongoing research continues to refine antibody performance while expanding insights into ATP7A's role beyond copper transport, including potential involvement in immune responses and neuronal signaling.