PMID: 31419281

Cyclase-associated protein 1 is a binding partner of proprotein convertase subtilisin/kexin type-9 and is required for the degradation of low-density lipoprotein receptors by proprotein convertase subtilisin/kexin type-9.

European heart journal

HD Jang, SE Lee, J Yang, HC Lee, D Shin, H Lee, J Lee, S Jin, S Kim, SJ Lee, J You, HW Park, KY Nam, SH Lee, SW Park, JS Kim, SY Kim, YW Kwon, SH Kwak, HM Yang, HS Kim

2020-01-07

6 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55529187-G-A	PCSK9	c.2009G>A	p.Gly670Glu	Missense	12/12	-
1-55529182-C-A	PCSK9	c.2004C>A	p.Ser668Arg	Missense	12/12	-
X-119602991-A-C	LAMP2	c.34T>G	p.Ser12Ala	Missense	1/9	-
1-55529182-C-G	PCSK9	c.2004C>G	p.Ser668Arg	Missense	12/12	-
1-55529180-A-C	PCSK9	c.2002A>C	p.Ser668Arg	Missense	12/12	-
1-55525195-G-A	PCSK9	c.1540G>A	p.Ala514Thr	Missense	10/12	-