Rabbit anti-Human CFC1 Polyclonal Antibody | anti-CFC1 antibody

Anti-CFC1 Antibody, Rabbit Polyclonal

Cat. Num. AAA8100480

• Gene Names: CFC1; HTX2; CFC1B; DTGA2; CRYPTIC
• Reactivity: Human
• Applications: Immunohistochemistry
• Purity: Protein A & Antigen Affinity
• Synonyms: CFC1; Polyclonal Antibody; Anti-CFC1 Antibody; Rabbit Polyclonal; CFC1 Antibody; Rabbit PAb; Antigen Affinity Purified; Anti-CFC1B Antibody; Anti-CRYPTIC Antibody; Anti-DTGA2 Antibody; Anti-HTX2 Antibody; anti-CFC1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: Rabbit IgG
• Specificity: Human CFC1
• Purity/Purification: Protein A & Antigen Affinity
• Form/Format: Liquid; 0.2um filtered solution in PBS

• Applicable Applications for anti-CFC1 antibody: Immunohistochemistry-Paraffin (IHC-P)
• Application Notes: IHC-P: 1:500-1:2000
• Immunogen: A synthetic peptide corresponding to the center region of the Human CFC1
• Conjugation: Unconjugated
• Preparation: Produced in rabbits immunized with a synthetic peptide corresponding to the center region of the Human CFC1, and purified by antigen affinity chromatography.
• Preparation and Storage: This antibody can be stored at 2-8 degree C for one month without detectable loss of activity. Antibody products are stable for twelve months from date of receipt when stored at -20 degree C to -80 degree C. Preservative-Free. Avoid repeated freeze-thaw cycles.

Immunohistochemistry (IHC)

(Immunochemical staining of human CFC1 in human stomach with rabbit polyclonal antibody (1:1000, formalin-fixed paraffin embedded sections).)

Related Product Information for anti-CFC1 antibody

Cryptic protein, which is encoded by CFC1 gene (crypto, FRL-1, cryptic family 1), belongs to the EGF-CFC family, and is a membrane-bound co-receptor that regulates signaling of the TGF-beta superfamily. In human, TGF-beta superfamily consists of more than thirty ligands, including BMPs, activins, NODAL and GDFs. Cryptic (CFC1), a member of the epidermal growth factor-Cripto/FRL-1/Cryptic (EGF-CFC) gene family, is involved in the evolutionarily conserved establishment of left-right lateral asymmetry. Inactivation of Cfc1 in mice results in laterality defects and complex cardiac malformations. Similarly, mutations in the human CFC1 gene have been identified in patients with heterotaxy syndrome. The cardiac defects in humans resemble those in mice lacking Cfc1.

Product Categories/Family for anti-CFC1 antibody

Early Mesodermal Lineage Markers

References

Tsubota S, et al. (2017) Neuroblastoma stem cells and cfc1. Oncotarget 8 (28): 45032-45033.Selamet Tierney ES, et al. (2007) Variants of the cfc1 gene in patients with laterality defects associated with congenital cardiac disease. Cardiol Young 17 (3): 268-274.Ozcelik C, et al. (2006) Mutations in the egf-cfc gene cryptic are an infrequent cause of congenital heart disease. Pediatr Cardiol 27 (6): 695-698.

NCBI and Uniprot Product Information

• NCBI GI #: 14211837
• NCBI GeneID: 55997
• NCBI Accession #: NP_115934.1
• NCBI GenBank Nucleotide #: NM_032545.3
• UniProt Accession #: P0CG37; Q53T05; Q9GZR3; B2RCY0; B9EJD3
• Molecular Weight: 24,612 Da
• NCBI Official Full Name: cryptic protein isoform 1
• NCBI Official Synonym Full Names: cripto, FRL-1, cryptic family 1
• NCBI Official Symbol: CFC1
• NCBI Official Synonym Symbols: HTX2; CFC1B; DTGA2; CRYPTIC
• NCBI Protein Information: cryptic protein; cryptic family protein 1; heterotaxy 2 (autosomal dominant)
• UniProt Protein Name: Cryptic protein
• Protein Family: Cryptic protein
• UniProt Gene Name: CFC1
• UniProt Entry Name: CFC1_HUMAN

NCBI Description

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]

Uniprot Description

CFC1: NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation. Defects in CFC1 are the cause of visceral heterotaxy autosomal type 2 (HTX2). A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. It results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects including cardiac malformations and situs inversus or situs ambiguus. Defects in CFC1 are a cause of transposition of the great arteries dextro-looped type 2 (DTGA2). A congenital heart defect consisting 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. Defects in CFC1 are a cause of conotruncal heart malformations (CTHM). 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.

Protein type: Membrane protein, GPI anchor

Chromosomal Location of Human Ortholog: 2q21.1

Cellular Component: plasma membrane; extracellular region

Biological Process: gastrulation; determination of left/right symmetry

Disease: Heterotaxy, Visceral, 2, Autosomal; Conotruncal Heart Malformations; Transposition Of The Great Arteries, Dextro-looped 2