Features include: Ascending tubular aorta aneurysm and Moyamoya phenomenon.

ACTA2 encodes actin alpha 2, smooth muscle (377 aa). Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells Highest expression in Artery Tibial (7,732 TPM) and Artery Aorta (5,736 TPM).

Moyamoya disease 5 is associated with mutations in the ACTA2 gene on chromosome 10.

The ACTA2 protein participates in ACTA2 gene expression is stimulated by NOTCH1, NOTCH2 and NOTCH4, Mammary myoepithelial progenitor cell produces mature myoepithelial cell, and Mammary stem cell produces myoepithelial/basal progenitor pathways.

ACTA2 is classified as a druggable target (Clinically Actionable category) with score 1.6.

56 pathogenic variants reported in ACTA2 in ClinVar, including hotspot variants 263578 and 199675.

Genetic testing for ACTA2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Moyamoya disease 5 has been reported in the published literature.

No clinical trials have been registered for Moyamoya disease 5.

274 publications have been identified in PubMed for Moyamoya disease 5. Research spans Clinical Trial Publication (21%), Epidemiology / Natural History (20%), and Basic Science / Preclinical (19%).