CFC1B rabbit pAb

SKU: ES10999

Size: 100μL

Source:Rabbit

Applications:WB;ELISA

Reactivity:Human;Rat;Mouse;

Dilution:WB 1:500-2000 ELISA 1:5000-20000

Immunogen:Synthesized peptide derived from part region of human protein

Storage_stability:-20°C/1 year

Clonality:Polyclonal

Isotype:IgG

Concentration:1 mg/ml

Observed_band(KD):24kD

Human_gene_id:653275

Human_swiss_prot_no:P0CG36

Subcellular_location:Secreted .

Other_name:

Background: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.,