apolipoprotein A5
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Familial chylomicronaemia syndrome (FCS)
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalLikely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalSevere hypertriglyceridaemia
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalUndiagnosed metabolic disorders
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Familial hypercholesterolaemia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedhyperlipoproteinemia type V
Hyperlipoproteinemia type 4
hypertriglyceridemia
Hyperlipoproteinemia type 5
metabolic syndrome
coronary artery disorder
hyperlipidemia
metabolic disease
Hypercholesterolemia
Abnormality of the cardiovascular system
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Apolipoprotein A-V
Minor apolipoprotein mainly associated with HDL and to a lesser extent with VLDL. May also be associated with chylomicrons. Important determinant of plasma triglyceride (TG) levels by both being a potent stimulator of apo-CII lipoprotein lipase (LPL) TG hydrolysis and an inhibitor of the hepatic VLDL-TG production rate (without affecting the VLDL-apoB production rate) (By similarity). Activates poorly lecithin:cholesterol acyltransferase (LCAT) and does not enhance efflux of cholesterol from macrophages. Binds heparin (PubMed:17326667)
Curated MONDO disease pages that list APOA5 among their top associated genes.
APOA5 · Q6Q788
Mean pLDDT
71.7/ 100
Confident
366 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
