Features include always present findings: Low HDL ("good") cholesterol (decreased hdl cholesterol concentration); and common findings: Premature coronary artery atherosclerosis. 5 total HPO annotations.

APOA1 encodes apolipoprotein A1 (267 aa). Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). Highest expression in Liver (5,952 TPM) and Testis (453.4 TPM).

Hypoalphalipoproteinemia, primary, 2 is associated with mutations in the APOA1 gene on chromosome 11.

The APOA1 protein participates in Expression of APOA1 pathway.

APOA1 is classified as a druggable target (Cell Surface, Druggable Genome, and Enzyme categories) with score 4.5.

Genetic testing for APOA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypoalphalipoproteinemia, primary, 2 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 1 common feature.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

156 publications have been identified in PubMed for hypoalphalipoproteinemia, primary, 2. Research spans Basic Science / Preclinical (33%), Case Report / Case Series (24%), and Review / Meta-Analysis (17%).