PAFAH1B1抗体—艾普蒂

The PAFAH1B1 gene encodes platelet-activating factor acetylhydrolase 1b regulatory subunit 1 (PAFAH1B1), commonly known as LIS1. a critical protein involved in neuronal migration and brain development. This protein regulates microtubule stability and interacts with dynein/dynactin complexes to coordinate intracellular transport during cortical development. Mutations in PAFAH1B1 are strongly associated with lissencephaly ("smooth brain"), a severe neurodevelopmental disorder characterized by impaired neuronal migration, cortical malformations, and intellectual disability. PAFAH1B1 antibodies are essential tools for studying its expression, localization, and function in both normal and pathological contexts. These antibodies are widely used in techniques like Western blotting, immunohistochemistry, and immunofluorescence to visualize PAFAH1B1 in tissues, cell lines, or experimental models. Researchers also employ them to investigate molecular mechanisms underlying neurodevelopmental disorders, screen for protein interactions, or validate CRISPR/Cas9-edited models. Commercially available PAFAH1B1 antibodies are typically raised in rabbits or mice against specific epitopes, with validation in knockout controls to ensure specificity. Their applications extend to clinical diagnostics, aiding in the confirmation of lissencephaly-related genetic variants and advancing therapeutic research for associated neurological conditions.