Anti-CFC1 Antibody (CAB17732)
- SKU:
- CAB17732
- Product type:
- Antibody
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
Frequently bought together:
Description
| 抗体名: | Anti-CFC1 Antibody |
| 抗体コード: | CAB17732 |
| 抗体サイズ: | 20uL, 50 uL |
| 申し込み: | WB |
| 反応性: | Mouse, Rat |
| 宿主種: | Rabbit |
| 免疫原: | A synthetic peptide of Human CFC1. |
| 申し込み: | WB |
| 推奨希釈: | WB 1:500 - 1:2000 |
| 反応性: | Mouse, Rat |
| ポジティブサンプル: |
| 免疫原: | A synthetic peptide of Human CFC1. |
| 精製方法: | Affinity purification |
| ストレージバッファ: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| アイソタイプ: | IgG |
| 順序: | Email for sequence |
| 遺伝子ID: | 55997 |
| Uniprot: | P0CG37 |
| セルラーロケーション: | |
| 計算された分子量: | |
| 観察された分子量: | Refer to figures |
| 同義語: | CFC1B, CRYPTIC, DTGA2, HTX2, CFC1 |
| バックグラウンド: | 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 |