ANGPTL3

ANGPTL3

A gene on chromosome 1p31.1-p22.3 that encodes angiopoietin-like protein 3, which is expressed primarily in the liver.

Molecular pathology
ANGPTL3 mutations are associated with familial hypobetalipoproteinaemia type 2.
References in periodicals archive ?
Familial hypocholesterolemia has received recent attention with the identification of mutations in the ANGPTL3 [2] (angiopoietin-like 3) and PCSK9 (proprotein convertase subtilisin/kexin type 9) genes as novel causes of low cholesterol concentrations (2).
2] Human genes: ANGPTL3, angiopoietin-like 3; PCSK9, proprotein convertase subtilisin/kexin type 9.
ANGPTL3 is a protein that acts as a key regulator of these blood lipids.
We know from genetic studies of patients who are heterozygous for loss-of-function mutations in their ANGPTL3 gene that they have half-normal levels of plasma ANGPTL3, and correspondingly, lower levels of plasma triglycerides and cholesterol.
ANGPTL3 is produced in the liver and regulates lipid, glucose and energy metabolism.
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
We know that humans who have loss-of-function mutations in ANGPTL3 exhibit lower levels of LDL-cholesterol and triglycerides and also display increased insulin sensitivity," said Sotirios Tsimikas, M.
Based on our preclinical data, we believe that reducing ANGPTL3 could have a beneficial impact on many lipid parameters, including LDL-cholesterol, triglycerides, total-cholesterol as well as effects on insulin sensitivity and other metabolic parameters.