LDL receptor locus

Hobbs HH, Russell DW, Brown MS, Goldstein JL. The LDL receptor locus in familial hypercholesterolemia mutational analysis of a membrane protein. Annu Rev Genet 1990 24 133-170. 

More than 150 different mutations in the LDL receptor gene have been shown to significantly disrupt the normal process of LDL removal from circulation. Heterozygotes possess one normal and one mutant allele at the LDL receptor locus and therefore can remove LDL at about half the normal rate. In contrast, homozygotes or compound heterozygotes have two of the mutant alleles and hence are unable to bind or remove LDL particles. 

Familial hypercholesterolemia An elevation in LDL cholesterol due to mutations at the LDL receptor locus. 

Two other new members of the LDL receptor family, LRP5 and LRP6 (reviewed in Ref. [23]), have been discovered in the course of attempts to identify the nature of the insulin-dependent diabetes mellitus locus IDDM4 on chromosome llql3. Human and... 

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