CREL1 Polyclonal Antibody

alternative products:Additional isoforms seem to exist,disease:Defects in CRELD1 may be the cause of susceptibility to atrioventricular septal defect 2 (AVSD2) [MIM:606217, 600309]. AVSD is a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. The complete form of AVSD involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum. A less severe form, known as partial AVSD or ostium primum atrial septal defect has a deficiency of the atrial septum. Complete AVSD are clinically apparent at birth, whereas less severe forms, such as an isolated cleft mitral valve or small defects of the atrial or ventricular septa may go undetected.,similarity:Belongs to the CRELD family.,similarity:Contains 2 EGF-like domains.,similarity:Contains 2 FU (furin-like) repeats.,tissue specificity:Highly expressed in fetal lung, liver, kidney, adult heart, brain and skeletal muscle. Weakly expressed in placenta, fetal brain, and adult lung, liver, kidney and pancreas.,