Disease-gene associations mined from literature

Literature associating PICALM and discrete subaortic stenosis

PICALM [ENSP00000377015]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM