免疫原
Synthesized peptide derived from human CFC1 AA range: 129-179
特异性
This antibody detects endogenous levels of CFC1 at Human/Mouse
来源
Polyclonal, Rabbit,IgG
组成（Formulation）
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺（Immunogen）
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
背景（Background）
This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012],
功能
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 s
细胞定位
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.
联系我们
关注我们
您当前的位置： 
说明书
成功添加到购物车
