Rabbit Polyclonal OCRL Antibody

The OCRL antibody targets the OCRL1 protein, encoded by the OCRL gene located on the X chromosome (Xq26.1). OCRL1 is a phosphatase enzyme critical for regulating phosphatidylinositol metabolism, particularly converting phosphatidylinositol 4.5-bisphosphate (PI(4.5)P₂) to phosphatidylinositol 4-phosphate (PI4P). This enzyme plays a key role in intracellular trafficking, endocytosis, and actin cytoskeleton dynamics. Mutations in OCRL1 are linked to two X-linked disorders: Lowe syndrome (oculocerebrorenal syndrome) and Dent disease 2. Lowe syndrome is a multisystem disorder affecting the eyes, brain, and kidneys, while Dent disease 2 primarily causes kidney dysfunction. OCRL antibodies are essential tools in research to study the expression, localization, and functional roles of OCRL1 in cellular processes and disease mechanisms. They are used in techniques like Western blotting, immunofluorescence, and immunohistochemistry to detect protein levels, subcellular distribution (e.g., Golgi apparatus, endosomes), and interactions with other trafficking-related proteins. These antibodies also aid in diagnosing and differentiating OCRL1-associated disorders, enabling genotype-phenotype correlations. Studying OCRL1 dysfunction provides insights into phosphoinositide signaling pathways and their implications in renal, neurological, and ocular pathologies.