Antibody Name:	Anti-CFC1 Antibody
Antibody SKU:	CAB17732
Antibody Size:	20uL, 50 uL
Application:	WB
Reactivity:	Mouse, Rat
Host Species:	Rabbit
Immunogen:	A synthetic peptide of Human CFC1.

Application:	WB
Recommended Dilution:	WB 1:500 - 1:2000
Reactivity:	Mouse, Rat
Positive Samples:

Immunogen:	A synthetic peptide of Human CFC1.
Purification Method:	Affinity purification
Storage Buffer:	Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	Email for sequence
Gene ID:	55997
Uniprot:	P0CG37
Cellular Location:
Calculated MW:
Observed MW:	Refer to figures

Synonyms:

CFC1B, CRYPTIC, DTGA2, HTX2, CFC1

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]

UniProt Protein Function:	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.
UniProt Protein Details:	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
NCBI Summary:	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 Code:	P0CG37
NCBI GenInfo Identifier:	46854798
NCBI Gene ID:	55997
NCBI Accession:	AAH69508.1
UniProt Secondary Accession:	P0CG37,Q53T05, Q9GZR3, B2RCY0, B9EJD3,
UniProt Related Accession:	P0CG37
Molecular Weight:	24,612 Da
NCBI Full Name:	Cryptic
NCBI 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
UniProt Synonym Protein Names:	Cryptic family protein 1
Protein Family:	Cryptic protein
UniProt Gene Name:	CFC1
UniProt Entry Name:	CFC1_HUMAN