Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autosomal dominant hypercholesterolemia 2

Autosomal dominant hypercholesterolemia 2 is caused by mutations of the apolipoprotein B gene, the ligand of the LDL receptor. Two mutated allele result in an extreme hypercholesterolemia.

Systematic

Hypercholesterolemia
Autosomal dominant hypercholesterolemia 1
Autosomal dominant hypercholesterolemia 2
APOB
Autosomal dominant hypercholesterolemia 3
Autosomal recessive hypercholesterolemia
Low density lipoprotein cholesterol level quantitative trait locus
Lp(a) hyperlipoproteinemia

References:

1.

Innerarity TL et al. (1987) Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding.

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2.

Goldstein JL et al. (1974) Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia.

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3.

Higgins MJ et al. (1975) A new type of familial hypercholesterolaemia.

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4.

OMIM.ORG article

Omim 144010 [^]
Update: April 29, 2019