Ψ PCSK9 - Ceratotherium simum simum

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_SYH0TX Ceratotherium simum simum LOF (frameshift, premature stop, ss) Full No Single individual SRA

Statements

Type Excerpt DOI
Functional "PCSK9 reduces the hepatic uptake of atherosclerosis-promoting low density lipoproteins (LDL) by targeting the LDL receptor for degradation (99)." 10.1093/nargab/lqz012
Mutation Description "PCSK9 is lost in at least six independent lineages totaling 20 mammals and CETP is lost in at least four independent lineages comprising a total of 33 mammals in our dataset (Figure 2A; Supplementary Figures S8 and S9)." 10.1093/nargab/lqz012
Other "While PCSK9 gain-of-function mutations cause hypercholesterolemia (100,101), loss-of function mutations in the human or mouse gene result in low LDL cholesterol levels (96,102–104)." 10.1093/nargab/lqz012
Other "Interestingly, many mammals have lost both PCSK9 and CETP." 10.1093/nargab/lqz012