HEG1
Description
The HEG1 (heart development protein with EGF like domains 1) is a protein-coding gene located on chromosome 3.
HEG1 is a receptor component of the CCM signaling pathway. This pathway plays a vital role in regulating the formation and maintenance of the heart and blood vessels. HEG1 might contribute to this process by strengthening the connections between endothelial cells, which line the inside of blood vessels.
HEG1 is also known as HEG, MST112, MSTP112.
Associated Diseases
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- alpha thalassemia-intellectual disability syndrome type 1
- delta-beta-thalassemia
- hemoglobin D disease
- hemoglobin E-beta-thalassemia syndrome
