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<p><b>New page</b></p><div>'''SH3BP2''' (SH3-domain binding protein 2) is a [[protein]] that in humans is encoded by the ''SH3BP2'' [[gene]]. This protein is involved in [[signal transduction]] pathways that regulate several cellular processes, including cell growth and differentiation. Mutations in this gene have been associated with [[Cherubism]], a rare genetic disorder characterized by abnormal bone development in the lower part of the face.<br />
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== Function ==<br />
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The SH3BP2 protein is a [[cytoplasmic]] adapter protein that plays a role in [[intracellular signaling]] pathways. It contains several functional domains, including a [[SH3 domain]] that binds to proline-rich sequences in other proteins, and a [[PH domain]] that binds to [[phospholipids]] in the cell membrane. The protein is involved in the regulation of several cellular processes, including [[cell proliferation]], [[cell differentiation]], and [[apoptosis]].<br />
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== Clinical significance ==<br />
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Mutations in the ''SH3BP2'' gene have been associated with Cherubism, a rare genetic disorder characterized by excessive bone degradation and abnormal bone formation in the lower part of the face. The condition typically becomes apparent in childhood and can result in facial disfigurement. Most cases of Cherubism are caused by mutations in the ''SH3BP2'' gene that result in a gain of function of the SH3BP2 protein, leading to increased [[osteoclast]] activity and abnormal bone remodeling.<br />
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== See also ==<br />
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* [[SH3 domain]]<br />
* [[PH domain]]<br />
* [[Cherubism]]<br />
* [[Signal transduction]]<br />
* [[Gene]]<br />
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== References ==<br />
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{{reflist}}<br />
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[[Category:Human proteins]]<br />
[[Category:Genes]]<br />
[[Category:Signal transduction]]<br />
[[Category:Genetic disorders]]<br />
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