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SH3BP2
SH3BP2 (SH3 domain-binding protein 2) is a protein that comes from a gene located on Chromosome 4. SH3BP2 binds differentially to the SH3 domains of certain proteins of signal transduction pathways. It binds to phosphatidylinositols linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism. It is also associated with cherubism. See also * SH3 domain The SRC Homology 3 Domain (or SH3 domain) is a small protein domain of about 60 amino acid residues. Initially, SH3 was described as a conserved sequence in the viral adaptor protein v-Crk. This domain is also present in the molecules of phos ... External links GeneReviews/NCBI/NIH/UW entry on Cherubism* Genetics Home Reference on SH3BP2 {{Adaptor proteins ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cherubism
Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name is derived from the temporary chubby-cheeked resemblance to putti, the chubby-faced infants featured in Renaissance paintings, which were often mistakenly described as cherubs. Signs and symptoms The appearance of people with the disorder is caused by a loss of bone in the mandible which the body replaces with excessive amounts of fibrous tissue. In most cases, the condition fades as the child grows, but in rare cases the condition continues to deform the affected person's face. Cherubism also causes premature loss of the primary teeth and lack of eruption and or displacement of the permanent teeth. Cherubism is a rare autosomal dominant disease of the maxilla and mandible. Approximately 200 cases have been reported by medical journals with the majority being males. Cherubism is usually first diagnosed around age seven and continues through puberty and may or may not continue to a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SH3 Domain
The SRC Homology 3 Domain (or SH3 domain) is a small protein domain of about 60 amino acid residues. Initially, SH3 was described as a conserved sequence in the viral adaptor protein v-Crk. This domain is also present in the molecules of phospholipase and several cytoplasmic tyrosine kinases such as Abl and Src. It has also been identified in several other protein families such as: PI3 Kinase, Ras GTPase-activating protein, CDC24 and cdc25. SH3 domains are found in proteins of signaling pathways regulating the cytoskeleton, the Ras protein, and the Src kinase and many others. The SH3 proteins interact with adaptor proteins and tyrosine kinases. Interacting with tyrosine kinases, SH3 proteins usually bind far away from the active site. Approximately 300 SH3 domains are found in proteins encoded in the human genome. In addition to that, the SH3 domain was responsible for controlling protein-protein interactions in the signal transduction pathways and regulating the interactions ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |