Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autosomal dominant hypercholesterolemia 3

Autosomal dominant hypercholesterolemia 3 is caused by mutations of the PCSK9 gene, a protein that regulates LDL receptor.

Systematic

Hypercholesterolemia
Autosomal dominant hypercholesterolemia 1
Autosomal dominant hypercholesterolemia 2
Autosomal dominant hypercholesterolemia 3
PCSK9
Autosomal recessive hypercholesterolemia
Low density lipoprotein cholesterol level quantitative trait locus
Lp(a) hyperlipoproteinemia

References:

1.

Varret M et al. (1999) A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.

[^]
2.

Hunt SC et al. (2000) Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred.

[^]
3.

Abifadel M et al. (2003) Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.

[^]
4.

Timms KM et al. (2004) A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree.

[^]
5.

Cohen J et al. (2005) Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

[^]
6.

Haddad L et al. (1999) Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred.

[^]
Update: Sept. 26, 2018