Features include: Elevated pulmonary artery pressure, Dyspnea, High blood pressure in lung arteries (pulmonary arterial hypertension), and Increased pulmonary vascular resistance.

CAV1 encodes caveolin 1 (178 aa). May act as a scaffolding protein within caveolar membranes. Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Highest expression in Cells Cultured fibroblasts (889.9 TPM) and Adipose Subcutaneous (543.3 TPM).

Pulmonary hypertension, primary, 3 is associated with mutations in the CAV1 gene on chromosome 7.

The CAV1 protein participates in CAV1 gene expression is stimulated by FOXO1,FOXO3, CACNA1D:CACNA2D2:CACNB2 (Cav1.3 channel) transports Ca2+ into the cytosol of an inner hair cell, and CDC42 GDIs block activation of CDC42 pathways.

CAV1 is classified as a druggable target (Kinase and Transporter categories) with score 13.1.

Genetic testing for CAV1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pulmonary hypertension, primary, 3 has been reported in the published literature.

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

276 publications have been identified in PubMed for pulmonary hypertension, primary, 3. Research spans Epidemiology / Natural History (31%), Clinical Trial Publication (26%), and Basic Science / Preclinical (17%).