DISEASES

Disease-gene associations mined from literature

Literature associating LDLR and Smith-Lemli-Opitz syndrome

LDLR [ENSP00000454071]

Low-density lipoprotein receptor; Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. (Microbial infection) Acts as a receptor for Vesicular stomatitis virus; Belongs to the LDLR family.

Synonyms:  A0A024R7D5,  H0YM92,  H0YMD1,  H0YMQ3,  J3KMZ9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM