disease:Defects in CFC1 are a cause of conotruncal heart malformations (CTHM) [MIM:217095]. CTHM consist of cardiac outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies.,disease:Defects in CFC1 are a cause of transposition of the great arteries, dextro-looped (DTGA) [MIM:608808]. The more common form of DTGA, consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required.,disease:Defects in CFC1 are a cause of visceral heterotaxy (HTX2) [MIM:605376]. HTX2 is an autosomal form of visceral heterotaxy (HTX). HTX is characterized by a variable group of congenital anomalies that include complex cardiac malformations and situs inversus or situs ambiguus.,function:Involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation.,PTM:N-glycosylated.,similarity:Contains 1 EGF-like domain.,
Cell membrane ; Lipid-anchor, GPI-anchor . Secreted . Does not exhibit a typical GPI-signal sequence. The C-ter hydrophilic extension of the GPI-signal sequence reduces the efficiency of processing and could lead to the production of an secreted unprocessed form. This extension is found only in primates.
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