Cryptic, Monoclonal Antibody

Cfc1; HTX2; CFC1B; DTGA2; CRYPTIC

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 2; NC_000002.12 (130592165..130599575, complement). Location: 2q21.1

Monoclonal

IgG1

(8D12)

Mouse

Lyophilized

Lyophilized samples are stable for 2 years from date of receipt when stored at -70 degree C. Reconstituted antibody can be aliquoted and stored frozen at < -20 degree C for at least for six months without detectable loss of activity.

Manufactured in an ISO 9001:2008 Certified Laboratory.

Small volumes of anti-CFC1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Cryptic, also known as CriptoFRL1Cryptic (CFC-1), was originally identified as a secreted protein that is specifically expressed during mesoderm differentiation. Cryptic, along with Cripto, Xenopus FRL-1 and zebrafish OEP (one-eyed pinhead) define the epidermal growth factor-CriptoFRL1Cryptic (EGF-CFC) family of signaling proteins. Genetic evidence from mice and humans points to a role for cryptic in determining left-right asymmetry.

Western Blot (WB)

24,612 Da[Similar Products]

cripto, FRL-1, cryptic family 1

cryptic protein; cryptic family protein 1; heterotaxy 2 (autosomal dominant)

Cryptic protein

CFC1_HUMAN

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]

Function: NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation. Ref.1

Subcellular location: Cell membrane; Lipid-anchor › GPI-anchor. Secreted. Note: 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. Ref.5

Post-translational modification: N-glycosylated

By similarity.

Involvement in disease: Heterotaxy, visceral, 2, autosomal (HTX2) [MIM:605376]: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with variety of congenital defects including cardiac malformations.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1Transposition of the great arteries dextro-looped 2 (DTGA2) [MIM:613853]: 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. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities: Contains 1 EGF-like domain.

Caution: This gene differs from CFC1B by only one residue at position 78:R -> W. R78W is also thought to be a CFC1 polymorphism which has been shown to lead to a different cell surface distribution and activity (Ref.6 and Ref.1).

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