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Background
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BRAF is involved in the transduction of mitogenic signals from the cell membrane to the nucleus. It may play a role in the postsynaptic responses of hippocampal neuron. Defects in BRAF are a cause of cardiofaciocutaneous syndrome (CFC syndrome), also known as cardio-facio-cutaneous syndrome. CFC syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. The inheritance of CFC syndrome is autosomal dominant.
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Background
References
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- Loewe, R., et al., J. Invest. Dermatol. 123(4):733-736 (2004).
- Yamaguchi, T., et al., J. Biol. Chem. 279(39):40419-40430 (2004).
- Frattini, M., et al., Oncogene 23(44):7436-7440 (2004).
- Tsavachidou, D., et al., Cancer Res. 64(16):5556-5559 (2004).
- Gear, H., et al., Invest. Ophthalmol. Vis. Sci. 45(8):2484-2488 (2004).
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