VLDLR(redirected from OTTHUMP00000020983)
VLDLRA 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.
VLDLR mutations cause VLDLR-associated cerebellar hypoplasia.
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