Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Proprotein convertase subtilisin/kexin type 9

The protein encoded by the PCSK9 gene plays a role in regulation of LDL receptors on the cell surface. Mutations in this gene cause autosomal dominant familial hypercholesterolemia type 3.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Autosomal dominant hypercholesterolemia 3
PCSK9
Combined familial hyperlipidemia with dysfunctional LDL clearance
ATF6
LDLR
PCSK9

References:

1.

Teslovich TM et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids.

[^]
2.

Kathiresan S et al. (2008) Polymorphisms associated with cholesterol and risk of cardiovascular events.

[^]
3.

Cohen JC et al. (2006) Sequence variations in PCSK9, low LDL, and protection against coronary heart disease.

[^]
4.

Lambert G et al. (2006) Fasting induces hyperlipidemia in mice overexpressing proprotein convertase subtilisin kexin type 9: lack of modulation of very-low-density lipoprotein hepatic output by the low-density lipoprotein receptor.

[^]
5.

Zhao Z et al. (2006) Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.

[^]
6.

Benjannet S et al. (2006) The proprotein convertase (PC) PCSK9 is inactivated by furin and/or PC5/6A: functional consequences of natural mutations and post-translational modifications.

[^]
7.

Mayne J et al. (2007) Plasma PCSK9 levels correlate with cholesterol in men but not in women.

[^]
8.

Kwon HJ et al. (2008) Molecular basis for LDL receptor recognition by PCSK9.

[^]
9.

Schmidt RJ et al. (2008) Secreted proprotein convertase subtilisin/kexin type 9 reduces both hepatic and extrahepatic low-density lipoprotein receptors in vivo.

[^]
10.

Kathiresan S et al. (2008) A PCSK9 missense variant associated with a reduced risk of early-onset myocardial infarction.

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]
14.

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

[^]
15.

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

[^]
16.

Seidah NG et al. (2003) The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation.

[^]
17.

Shioji K et al. (2004) Genetic variants in PCSK9 affect the cholesterol level in Japanese.

[^]
18.

Maxwell KN et al. (2004) Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype.

[^]
19.

Ouguerram K et al. (2004) Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9.

[^]
20.

Park SW et al. (2004) Post-transcriptional regulation of low density lipoprotein receptor protein by proprotein convertase subtilisin/kexin type 9a in mouse liver.

[^]
21.

Maxwell KN et al. (2005) Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment.

[^]
22.

Sun XM et al. (2005) Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia.

[^]
23.

Rashid S et al. (2005) Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9.

[^]
24.

Kotowski IK et al. (2006) A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

[^]
25.

NCBI article

NCBI 255738 [^]
26.

OMIM.ORG article

Omim 607786 [^]
27.

Orphanet article

Orphanet ID 124137 [^]
28.

Wikipedia article

Wikipedia EN (PCSK9) [^]
Update: April 29, 2019