SH3BP2

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.

Function

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.

Clinical significance

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.

See also

• SH3 domain
• PH domain
• Cherubism
• Signal transduction
• Gene

References

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