Phosphatidylinositol Binding Clathrin Assembly Protein
CALM
CLTH
Phosphatidylinositol-Binding Clathrin Assembly Protein
Clathrin Assembly Lymphoid Myeloid Leukemia Protein
LAP
This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
Forensic Context
A study in mice demonstrated that the PICALM is a pro-apoptotic gene directly targeted by the anti-apoptotic miRNA miR-30c-5p, where its knockdown increases survival signaling in cardiomyocytes [Kim et al. DOI:10.1038/s41598-018-33020-x].