Human Cryptic protein ELISA Kit | CFC1 elisa kit

Human Cryptic protein ELISA Kit

Cat. Num. AAA289202

• Gene Names: CFC1; HTX2; CFC1B; DTGA2; CRYPTIC
• Reactivity: Human
• Synonyms: Cryptic protein; Human Cryptic protein ELISA Kit; Cryptic family protein 1; CFC1; CFC1 elisa kit

• Reactivity: Human
• Sequence Length: 191

• Assay Type: Sandwich
• Detection Range: 0.156-10 ng/mL
• Sensitivity: 0.089ng/mL
• Intra-Assay CV: <=5.8%
• Inter-Assay CV: <=7.7%
• Recovery: 106%
• Preparation and Storage: For long term storage, please store the entire kit at -20 degree C.

Typical Testing Data/Standard Curve (for reference only)

NCBI and Uniprot Product Information

• NCBI GI #: 394953832
• NCBI GeneID: 55997
• NCBI Accession #: NP_001257349.1
• NCBI GenBank Nucleotide #: NM_001270420.1
• UniProt Accession #: P0CG37; Q53T05; Q9GZR3; B2RCY0; B9EJD3
• Molecular Weight: 24,612 Da
• NCBI Official Full Name: cryptic protein isoform 2
• 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
• 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: extracellular region; plasma membrane

Biological Process: determination of left/right symmetry; gastrulation

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