APOA5 encodes apolipoprotein A5 (366 aa). Minor apolipoprotein mainly associated with HDL and to a lesser extent with VLDL. May also be associated with chylomicrons. Highest expression in Liver (309.2 TPM) and Testis (1.6 TPM).

Hyperlipoproteinemia type V is associated with mutations in the APOA5 gene on chromosome 11.

The APOA5 protein participates in Expression of APOA5, APOA4,APOA5,APOC2,CIDEC,FGF21 genes express APOA4,APOA5,APOC2,CIDEC,FGF21 proteins, and LPL hydrolyses TGs from mature CMs pathways.

APOA5 is classified as a druggable target (Druggable Genome category) with score 1.4.

Genetic testing for APOA5 is available. Testing is considered confirmatory for diagnosis.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 1 PHASE1, 1 NA. Research is sponsored by a mix of industry and academic institutions.

15 publications have been identified in PubMed for hyperlipoproteinemia type V. Research spans Case Report / Case Series (40%), Epidemiology / Natural History (27%), and Basic Science / Preclinical (13%).

Recent Publications

• Ariza MJ (2026). [PMID: 41688327](https://pubmed.ncbi.nlm.nih.gov/41688327/). *Journal of clinical lipidology*. [Case Report / Case Series]

• Miyauchi S (2026). [PMID: 41705492](https://pubmed.ncbi.nlm.nih.gov/41705492/). *Endocrinology, diabetes &amp; metabolism case reports*. [Case Report / Case Series]

• Guay SP (2025). [PMID: 40664291](https://pubmed.ncbi.nlm.nih.gov/40664291/). *Clinical biochemistry*. [Basic Science / Preclinical]

• Merlini S (2025). [PMID: 40346724](https://pubmed.ncbi.nlm.nih.gov/40346724/). *Alzheimer's &amp; dementia : the journal of the Alzheimer's Association*. [Epidemiology / Natural History]

• Li F (2025). [PMID: 40535644](https://pubmed.ncbi.nlm.nih.gov/40535644/). *American journal of translational research*. [Gene Therapy / Novel Therapeutics]

• Ariza MJ (2025). [PMID: 39873189](https://pubmed.ncbi.nlm.nih.gov/39873189/). *Genetics in medicine : official journal of the American College of Medical Genetics*. [Case Report / Case Series]

• Emmert AS (2025). [PMID: 40147599](https://pubmed.ncbi.nlm.nih.gov/40147599/). *Arthroscopy : the journal of arthroscopic &amp; related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association*. [Clinical Trial Publication]

• Cao C (2024). [PMID: 38462482](https://pubmed.ncbi.nlm.nih.gov/38462482/). *Journal of atherosclerosis and thrombosis*. [Case Report / Case Series]

• Moreno Tirado A (2024). [PMID: 38692986](https://pubmed.ncbi.nlm.nih.gov/38692986/). *Medicina clinica*. [Case Report / Case Series]

• Heath O (2024). [PMID: 38974610](https://pubmed.ncbi.nlm.nih.gov/38974610/). *JIMD reports*. [Epidemiology / Natural History]