The acta2 gene encodes a smooth muscle type alpha-actin-2 protein, an actin which polymerizes into thin filaments and binds ATP. This protein localizes to the cytoskeleton and functions in muscle contr...[+]

The acta2 gene encodes a smooth muscle type alpha-actin-2 protein, an actin which polymerizes into thin filaments and binds ATP. This protein localizes to the cytoskeleton and functions in muscle contraction. It is expressed in the heart, skeletal muscles, tail, pronephros, blood vessels, and branchial arches. [-]

             thoracic aortic aneurysm

          MOYAMOYA DISEASE 5; MYMY5
          SMOOTH MUSCLE DYSFUNCTION SYNDROME; SMDYS

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD