ITT4731
ITT4731
- Catalog: ITT4731
- Gene/Protein: TCOF1
- Product Description: Immunotag™ Treacle Polyclonal Antibody
385.0000
Price in reward points: 385
| Antibody Specification | |
| Datasheet | 
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| Target Protein | Treacle |
| Clonality | Polyclonal |
| Storage/Stability | -20°C/1 year |
| Application | WB,IHC-p,IF,ELISA |
| Recommended Dilution | Western Blot: 1/500 - 1/2000. Immunohistochemistry: 1/100 - 1/300. Immunofluorescence: 1/200 - 1/1000. ELISA: 1/10000. Not yet tested in other applications. |
| Concentration | 1 mg/ml |
| Reactive Species | Human,Mouse |
| Host Species | Rabbit |
| Immunogen | The antiserum was produced against synthesized peptide derived from human TCOF1. AA range:41-90 |
| Specificity | Treacle Polyclonal Antibody detects endogenous levels of Treacle protein. |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen |
| Form | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Gene Name | TCOF1 |
| Accession No. | Q13428 O08784 |
| Alternate Names | TCOF1; Treacle protein; Treacher Collins syndrome protein |
| Description | treacle ribosome biogenesis factor 1(TCOF1) Homo sapiens This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008], |
| Protein Expression | Brain,Epithelium,Eye,Skin,Testis,Thymus, |
| Subcellular Localization | nucleus,nucleolus,cytoplasm, |
| Protein Function | disease:Defects in TCOF1 are the cause of Treacher Collins syndrome (TCS) [MIM:154500]. TCS is an autosomal dominant disorder of craniofacial development that occurs with an incidence of 1/50,000 live births. The clinical features of TCS are bilaterally symmetrical and include: (1) abnormalities of the external ears, atresia of the external ear canals, and malformation of the middle ear ossicles, which may result in conductive hearing loss; (2) lateral downward sloping of palpebral fissures, frequently with colobomas of the lower eyelids; (3) hypoplasia of the mandible and zygomatic complex; (4) cleft palate.,function:May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 1 LisH domain., |
| Usage | For Research Use Only! Not for diagnostic or therapeutic procedures. |
| Material Safety Data Sheet | |
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