ANGPTL3 Antibody – Rabbit Polyclonal

This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metabolism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Aug 2015]

ANGPTL3: Defects in ANGPTL3 are the cause of familial hypobetalipoproteinemia type 2 (FHBL2); also called combined hypobetalipoproteinemia familial. FHBL2 is a disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Affected individuals present with combined hypolipidemia, consisting of extremely low plasma levels of LDL cholesterol, HDL cholesterol, and triglycerides.

Protein type: Cell adhesion; Inhibitor; Motility/polarity/chemotaxis; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 1p31.3

Cellular Component: cell surface; extracellular space

Molecular Function: enzyme inhibitor activity; growth factor activity; integrin binding; phospholipase inhibitor activity

Biological Process: acylglycerol homeostasis; artery morphogenesis; cell-matrix adhesion; cholesterol homeostasis; cholesterol metabolic process; fatty acid metabolic process; glycerol metabolic process; lipid homeostasis; negative regulation of lipoprotein lipase activity; phospholipid catabolic process; phospholipid homeostasis; phospholipid metabolic process; positive regulation of angiogenesis; positive regulation of cell migration; positive regulation of lipid catabolic process; sequestering of lipid; signal transduction

Disease: Hypobetalipoproteinemia, Familial, 2