DHCR7抗体

The DHCR7 antibody targets the enzyme 7-dehydrocholesterol reductase (DHCR7), a critical player in cholesterol biosynthesis. DHCR7 catalyzes the final step of the Kandutsch-Russell pathway, converting 7-dehydrocholesterol (7-DHC) to cholesterol. Mutations in the DHCR7 gene are linked to Smith-Lemli-Opitz syndrome (SLOS), a rare autosomal recessive disorder characterized by developmental abnormalities, intellectual disability, and reduced cholesterol levels with elevated 7-DHC. Research on DHCR7 antibodies focuses on understanding its expression, localization, and function in cellular cholesterol homeostasis. These antibodies are widely used in techniques like Western blotting, immunohistochemistry, and immunofluorescence to study DHCR7 protein levels in tissues, cell lines, or disease models. In diagnostics, DHCR7 antibodies aid in confirming SLOS by detecting enzyme deficiency. Recent studies also explore DHCR7's role beyond SLOS, including its potential involvement in cancer, neurodegenerative diseases, and vitamin D metabolism, where altered DHCR7 activity may influence disease progression. Validated DHCR7 antibodies are essential for investigating cholesterol-related pathways and developing therapeutic strategies targeting metabolic disorders.