Ontology highlight
ABSTRACT:
SUBMITTER: Tikka A
PROVIDER: S-EPMC4824806 | biostudies-literature | 2016 May
REPOSITORIES: biostudies-literature
Tikka Anna A Jauhiainen Matti M
Endocrine 20160111 2
Angiopoietin-like protein 3 (ANGPTL3) is a secretory protein regulating plasma lipid levels via affecting lipoprotein lipase- and endothelial lipase-mediated hydrolysis of triglycerides and phospholipids. ANGPTL3-deficiency due to loss-of-function mutations in the ANGPTL3 gene causes familial combined hypobetalipoproteinemia (FHBL2, OMIM # 605019), a phenotype characterized by low concentration of all major lipoprotein classes in circulation. ANGPTL3 is therefore a potential therapeutic target t ...[more]