Mutations or dysregulation of GATA4 can lead to various diseases, particularly those affecting the heart:
Congenital Heart Defects: Mutations in GATA4 are linked to several congenital heart defects, such as atrial and ventricular septal defects. Cardiomyopathies: Altered GATA4 activity is associated with cardiomyopathies, including dilated and hypertrophic cardiomyopathy. Cancer: Abnormal GATA4 expression has been observed in multiple cancers, suggesting a role in tumorigenesis.
