功能： catalytic activity:ATP + a protein = ADP + a phosphoprotein.,cofactor:Binds 2 zinc ions per subunit.,disease:Defects in BRAF are a cause of cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]; 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.,disease:Defects in BRAF are involved in a wide range of cancers.,disease:Defects in BRAF are involved in lung cancer [MIM:211980].,disease:Defects in BRAF are involved in non-Hodgkin lymphoma (NHL) [MIM:605027]. NHL is a cancer that starts in cells of the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes, fever and weight loss.,disease:Defects in BRAF may be a cause of colorectal cancer (CRC) [MIM:114500].,function:Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron.,similarity:Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily.,similarity:Contains 1 phorbol-ester/DAG-type zinc finger.,similarity:Contains 1 protein kinase domain.,similarity:Contains 1 RBD (Ras-binding) domain.,subunit:Interacts with RIT1.,tissue specificity:Brain and testis.,
相關產(chǎn)品： RS0001,RS0002,YM3028,YM3029
細胞定位： Nucleus . Cytoplasm . Cell membrane . Colocalizes with RGS14 and RAF1 in both the cytoplasm and membranes. .
功能： catalytic activity:ATP + a protein = ADP + a phosphoprotein.,cofactor:Binds 2 zinc ions per subunit.,disease:Defects in BRAF are a cause of cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]; 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.,disease:Defects in BRAF are involved in a wide range of cancers.,disease:Defects in BRAF are involved in lung cancer [MIM:211980].,disease:Defects in BRAF are involved in non-Hodgkin lymphoma (NHL) [MIM:605027]. NHL is a cancer that starts in cells of the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes, fever and weight loss.,disease:Defects in BRAF may be a cause of colorectal cancer (CRC) [MIM:114500].,function:Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron.,similarity:Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily.,similarity:Contains 1 phorbol-ester/DAG-type zinc finger.,similarity:Contains 1 protein kinase domain.,similarity:Contains 1 RBD (Ras-binding) domain.,subunit:Interacts with RIT1.,tissue specificity:Brain and testis.,
相關產(chǎn)品： RS0001,RS0002,YM3028,YM3029
細胞定位： Nucleus . Cytoplasm . Cell membrane . Colocalizes with RGS14 and RAF1 in both the cytoplasm and membranes. .
組織表達： Brain and testis.
科研貨號： PLA005230
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