Literature associating PICALM and discrete subaortic stenosis
Phosphatidylinositol binding clathrin assembly protein; Assembly protein recruiting clathrin and adapter protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. May be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. Involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction; Belongs to the PICALM/SNAP91 family.
Synonyms: PICALM, A0A024R5L7, A0A024R5P1, B4DLM1, E9PI56 ...