VLDLR
VLDLR
A gene on chromosome 9p24 that encodes a cell surface protein involved in receptor-mediated endocytosis of very low-density lipoprotein (VLDL), and transports it into cells by endocytosis. Internalisation of the receptor-ligand complex requires clustering into clathrin-coated pits.Molecular pathology
VLDLR mutations cause VLDLR-associated cerebellar hypoplasia.