The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]
- Triglyceride metabolic process
- Cholesterol biosynthetic process
- Lipid transport
- Positive regulation of cholesterol esterification
- Positive regulation of triglyceride catabolic process
- Hyperlipoproteinemia, type v
- Hypertriglyceridemia, familial
- Hyperlipoproteinemia, type iv
- Hyperlipidemia, familial combined, 3
- Hyperlipoproteinemia, type iii
- Other Cardiac Conditions
Based on Ayass Bioscience, LLC Data Analysis
APOA5 Localizations – Subcellular Localization Database
Gene Location
HM-VUS Prevalence
% 0.0510725229826353
Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)
High/Med VUS Variants
C=0.064650(8118/125568,TOPMED)
C=0.07436(5852/78700,PAGE_STUDY)
C=0.05324(643/12078,ALFAProject)
C=0.0557(279/5008,1000G)
C=0.0638(286/4480,Estonian)
C=0.0643(248/3854,ALSPAC)
C=0.0620(230/3708,TWINSUK)
C=0.066(66/998,GoNL)
C=0.003(2/616,Vietnamese)
C=0.065(39/600,NorthernSweden)
C=0.060(32/534,MGP)
C=0.056(12/216,Qatari)
G=0.45(28/62,SGDP_PRJ)
C=0.03(1/40,GENOME_DK)
G=0.5(1/2,Siberian)
C=0.5(1/2,Siberian)