ACTA2
Cardiovascular System · Vascular Smooth Muscle Contraction
How can ACTA2 affect arteries as well as other organs?
ACTA2 makes an actin protein used by smooth muscle to contract. Smooth muscle is present in blood-vessel walls and internal organs, so disease-causing changes can involve more than one body system.
- Common Gene Name
- actin alpha 2, smooth muscle
- NCBI Gene ID
- 59
- Chromosome
- 10
Clinical Evidence Status
Actionability report availableEstablished disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (4 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| multisystemic smooth muscle dysfunction syndrome | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2025-01-24 |
| Familial thoracic aortic aneurysm and dissection | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2015-01 | |
| Familial thoracic aortic aneurysms and dissections (FTAAD) | ClinGen clinical actionability | Scored report; not a validity grade | Adult | View source 2021-08-16 |
| Familial thoracic aortic aneurysms and dissections (FTAAD) | ClinGen clinical actionability | Scored report; not a validity grade | Pediatric | View source 2022-02-09 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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