Immunogen sequence: MGPWGWKLR WTVALLLAAA GTAVGDRCER NEFQCQDGKC ISYKWVCDGS AECQDGSDES QETCLSVTCK SGDFSCGGRV NRCIPQFWRC DGQVDCDNGS DEQGCPPKTC SQDEFRCHDG KCISRQFVCD SDRDCLDGSD EASCPVLTCG PASFQCNSST CIPQLWACDN DPDCEDGSDE WPQRCRGLYV FQGDSSPCSA FEFHCLSGEC IHSSWRCDGG PDCKDKSDEE NCAVATCRPD EFQCSDGNCI HGSRQCDREY DCKDMSDEVG CVNVTLCEGP NKFKCHSGEC ITLDKVCNMA RDCRDWSDEP IKECGTNECL DNNGGCSHVC NDLKIGYECL CPDGFQLVAQ R (1-350 aa encoded by BC014514)
The low density lipoprotein receptor (LDL-R) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in the LDL-R gene cause the autosomal dominant disorder, familial hypercholesterolemia. Along with SCARB1, CLDN1, and the tetraspanin superfamily member CD81, LDL-R has been reported to be an entry factor for the Hepatitis C virus. At least three isoforms of LDL-R are known to exist.
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Protein Aliases: LDL receptor; ldl-r; Low-density lipoprotein receptor; low-density lipoprotein receptor class A domain-containing protein 3
Gene Aliases: FH; FHC; LDLCQ2; LDLR
UniProt ID: (Human) P01130
Entrez Gene ID: (Human) 3949
Molecular Function: apolipoprotein