disease:Defects in SH3BP2 are the cause of cherubism (CRBM) [MIM:118400]. CRBM is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling.,function:Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism.,similarity:Contains 1 PH domain.,similarity:Contains 1 SH2 domain.,tissue specificity:Expressed in a variety of tissues including lung, liver, skeletal muscle, kidney and pancreas.,
Expressed in a variety of tissues including lung, liver, skeletal muscle, kidney and pancreas.
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