Gene:
elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)
Gene ID:
197936
Symbol:
ELN
Species:
1000
Description:
Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity).